ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3282G>A (p.Lys1094=) (rs2491080)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769226 SCV000900602 uncertain significance Cardiomyopathy 2015-12-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769226 SCV001350048 likely benign Cardiomyopathy 2020-02-18 criteria provided, single submitter clinical testing
Invitae RCV001500091 SCV001704872 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-03-05 criteria provided, single submitter clinical testing

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