ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.414A>G (p.Gln138=)

gnomAD frequency: 0.00005  dbSNP: rs770596449
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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) RCV000726955 SCV000704425 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000594815 SCV000716311 likely benign not specified 2017-03-01 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 RCV001272176 SCV001694172 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272176 SCV001453874 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-04-19 no assertion criteria provided clinical testing

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