ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2091A>T (p.Gly697=)

dbSNP: rs2076304
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719119 SCV000730172 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001396616 SCV001598351 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491298 SCV002801959 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 2021-08-25 criteria provided, single submitter clinical testing

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