ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.144G>C (p.Val48=) (rs372152495)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154565 SCV000171620 benign not specified 2014-04-08 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154565 SCV000204238 benign not specified 2012-04-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000232413 SCV000284648 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154565 SCV000338989 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770204 SCV000901633 benign Cardiomyopathy 2015-09-17 criteria provided, single submitter clinical testing

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