ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.402T>C (p.Ala134=) (rs190935424)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183898 SCV000236381 benign not specified 2014-08-27 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725606 SCV000338103 uncertain significance not provided 2016-01-18 criteria provided, single submitter clinical testing
Invitae RCV001082935 SCV000562852 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618190 SCV000739898 likely benign Cardiovascular phenotype 2013-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770206 SCV000901636 likely benign Cardiomyopathy 2017-03-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000183898 SCV001572531 benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000183898 SCV001922590 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725606 SCV001931507 likely benign not provided no assertion criteria provided clinical testing

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