ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.438C>T (p.Asp146=)

gnomAD frequency: 0.00014  dbSNP: rs144497243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178737 SCV000230878 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081116 SCV001020073 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-10-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081116 SCV001455351 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-09-16 no assertion criteria provided clinical testing

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