ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7848G>A (p.Ser2616=) (rs148798300)

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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 RCV000769243 SCV000900619 uncertain significance Cardiomyopathy 2015-11-04 criteria provided, single submitter clinical testing
Invitae RCV000866490 SCV001007594 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-09-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769243 SCV001346171 likely benign Cardiomyopathy 2019-05-04 criteria provided, single submitter clinical testing

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