ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6927G>A (p.Arg2309=) (rs747248981)

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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 RCV000251216 SCV000320070 likely benign Cardiovascular phenotype 2015-08-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Synonymous alterations with insufficient evidence to classify as benign
Color RCV000772007 SCV000904963 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000436656 SCV000515735 likely benign not specified 2015-11-17 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845361 SCV000987415 likely benign not provided criteria provided, single submitter clinical testing

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