ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.888C>T (p.Tyr296=)

gnomAD frequency: 0.00008  dbSNP: rs149701627
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180133 SCV001345000 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Invitae RCV002064563 SCV002396628 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372442 SCV002685339 likely benign Cardiovascular phenotype 2018-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002501273 SCV002798529 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-10-26 criteria provided, single submitter clinical testing

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