ClinVar Miner

Submissions for variant NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) (rs200761715)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000284183 SCV000615221 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000284183 SCV000334852 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000284183 SCV000714385 benign not specified 2017-12-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000386817 SCV000449663 uncertain significance Beta-sarcoglycanopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295248 SCV000449664 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534489 SCV000642386 benign Limb-girdle muscular dystrophy, type 2E 2017-04-24 criteria provided, single submitter clinical testing

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