"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MYCL-AS - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1991419	NM_017646.6(TRIT1):c.174+18G>T	MYCL-AS1, TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642032	NM_017646.6(TRIT1):c.141C>T (p.Leu47=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1195476	NM_017646.6(TRIT1):c.53G>T (p.Gly18Val)	MYCL-AS1, TRIT1 (G18V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1342274	NM_017646.6(TRIT1):c.33C>T (p.Pro11=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2960528	NM_017646.6(TRIT1):c.27A>G (p.Ala9=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417684	NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	MYCL-AS1, TRIT1 (R8*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation deficiency 35 +2 more	GPathogenic/Likely pathogenic
Select item 1365813	NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr)	MYCL-AS1, TRIT1 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

ClinVar