ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.507G>T (p.Gly169=)

dbSNP: rs199905729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725039 SCV000333454 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000375825 SCV000534889 likely benign not specified 2016-12-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087933 SCV000634387 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001087933 SCV001453878 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-04-19 no assertion criteria provided clinical testing

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