ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3018A>G (p.Leu1006=) (rs375412541)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181258 SCV000233538 benign not specified 2014-11-03 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.
Invitae RCV000459201 SCV000555782 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-04-12 criteria provided, single submitter clinical testing
Color RCV000778026 SCV000914138 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing

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