ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.111C>T (p.Thr37=)

gnomAD frequency: 0.00001  dbSNP: rs727502995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178384 SCV001342822 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001476491 SCV001680700 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438605 SCV004163034 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DSP: BP4, BP7
Ambry Genetics RCV004029697 SCV005022431 likely benign Cardiovascular phenotype 2024-03-11 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.
All of Us Research Program, National Institutes of Health RCV004807232 SCV005428768 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-14 criteria provided, single submitter clinical testing

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