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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 775907	NM_021937.5(EEFSEC):c.540G>A (p.Pro180=)	EEFSEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785062	NM_021937.5(EEFSEC):c.1304C>T (p.Ala435Val)	EEFSEC (A435V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716104	NM_021937.5(EEFSEC):c.1742T>G (p.Phe581Cys)	EEFSEC (F581C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720323	NM_021937.5(EEFSEC):c.1772G>A (p.Arg591His)	EEFSEC (R591H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	MBD4, MCM2 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1375570	NC_000003.11:g.(?_127771396)_(128205874_?)del	DNAJB8, EEFSEC +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic

ClinVar