ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1344G>A (p.Leu448=) (rs138226280)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621322 SCV000736836 likely benign Cardiovascular phenotype 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771824 SCV000904530 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000181255 SCV000233535 benign not specified 2014-08-28 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 RCV000227634 SCV000288525 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-01 criteria provided, single submitter clinical testing

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