ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8268A>C (p.Ile2756=) (rs397516963)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038098 SCV000061764 likely benign not specified 2015-03-30 criteria provided, single submitter clinical testing p.Ile2756Ile in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (112/16510) of South Asian chr omosomes including three homozygotes by the Exome Aggregation Consortium (ExAC,; dbSNP rs397516963).
GeneDx RCV000038098 SCV000233554 benign not specified 2014-09-12 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 RCV000547042 SCV000641352 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-01 criteria provided, single submitter clinical testing
Color RCV000771375 SCV000903672 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing

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