ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2658G>A (p.Lys886=)

gnomAD frequency: 0.00001  dbSNP: rs201404613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002174959 SCV002348347 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045044 SCV005022392 likely benign Cardiovascular phenotype 2023-12-01 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 RCV004808199 SCV005428869 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-06 criteria provided, single submitter clinical testing

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