ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6441C>A (p.Val2147=)

gnomAD frequency: 0.00001  dbSNP: rs762513279
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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 RCV001181975 SCV001347246 likely benign Cardiomyopathy 2020-02-25 criteria provided, single submitter clinical testing
Invitae RCV001394807 SCV001596497 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001712873 SCV001944689 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491527 SCV002803090 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 2021-07-20 criteria provided, single submitter clinical testing

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