Submissions for variant NM_003673.4(TCAP):c.267G>A (p.Leu89=)

gnomAD frequency: 0.00002  dbSNP: rs1419129039

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000608020	SCV000718677	likely benign	not specified	2017-04-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001412997	SCV001615099	likely benign	Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy	2025-01-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483686	SCV002796744	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25	2021-09-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892336	SCV004712340	likely benign	TCAP-related disorder	2020-10-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).