ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.516A>G (p.Thr172=)

dbSNP: rs753952200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595314 SCV000703382 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000595314 SCV001788620 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062022 SCV002388752 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341519 SCV002641116 likely benign Inborn genetic diseases 2022-04-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV000595314 SCV005890612 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing SGCD: BP4, BP7

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