"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583783	NC_000010.10:g.(?_73079047)_(73082831_?)dup	LOC130004025, SLC29A3	Duplication	H syndrome	GUncertain significance
Select item 2136876	NM_018344.6(SLC29A3):c.1+2T>G	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +2 more)	H syndrome	GLikely pathogenic
Select item 1928581	NM_018344.6(SLC29A3):c.1+8C>T	LOC130004025, SLC29A3	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GLikely benign
Select item 2818547	NM_018344.6(SLC29A3):c.1+14G>C	SLC29A3, LOC130004025	Single nucleotide variant (5 prime UTR variant +1 more)	H syndrome	GLikely benign

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