ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.12G>C (p.Ala4=)

dbSNP: rs758245081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729297 SCV000856946 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060975 SCV002321388 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-10-14 criteria provided, single submitter clinical testing

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