ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.976C>T (p.Leu326Phe)

gnomAD frequency: 0.00001  dbSNP: rs117961973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641800 SCV000763450 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499078 SCV002800888 uncertain significance 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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