ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4104C>T (p.Thr1368=)

dbSNP: rs1464715776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180510 SCV001345448 likely benign Cardiomyopathy 2020-01-28 criteria provided, single submitter clinical testing
Invitae RCV003769967 SCV004572129 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-16 criteria provided, single submitter clinical testing

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