ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3651G>A (p.Thr1217=)

gnomAD frequency: 0.00003  dbSNP: rs1057522191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421569 SCV000526565 likely benign not specified 2016-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001191922 SCV001359857 likely benign Cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing
Invitae RCV001475571 SCV001679765 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-21 criteria provided, single submitter clinical testing

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