ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.506-7T>G

gnomAD frequency: 0.00009  dbSNP: rs774582375
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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) RCV000725613 SCV000338172 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000270133 SCV000724832 likely benign not specified 2017-11-21 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 RCV001084343 SCV001018550 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725613 SCV004698490 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing SGCG: BP2, BP4
Natera, Inc. RCV001084343 SCV001453877 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-01-24 no assertion criteria provided clinical testing

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