Submissions for variant NM_004415.4(DSP):c.4401A>G (p.Gln1467=)

gnomAD frequency: 0.00005  dbSNP: rs199818953

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253264	SCV000318545	likely benign	Cardiovascular phenotype	2018-04-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001705386	SCV000530137	likely benign	not provided	2020-03-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770242	SCV000901673	likely benign	Cardiomyopathy	2017-09-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770242	SCV000913874	likely benign	Cardiomyopathy	2018-10-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000863541	SCV001004224	benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8	2024-11-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420816	SCV001437405	likely benign	not specified	2020-09-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999021	SCV004821439	likely benign	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	2023-10-27	criteria provided, single submitter	clinical testing