ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4401A>G (p.Gln1467=) (rs199818953)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253264 SCV000318545 likely benign Cardiovascular phenotype 2018-04-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000420816 SCV000530137 likely benign not specified 2016-07-21 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770242 SCV000901673 likely benign Cardiomyopathy 2017-09-07 criteria provided, single submitter clinical testing
Color RCV000770242 SCV000913874 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV000863541 SCV001004224 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing

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