ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4554C>T (p.Asn1518=)

dbSNP: rs1359876288
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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 RCV001186115 SCV001352459 likely benign Cardiomyopathy 2019-02-25 criteria provided, single submitter clinical testing
Invitae RCV002068428 SCV002402503 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-05-13 criteria provided, single submitter clinical testing

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