ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.196-6T>A

gnomAD frequency: 0.00001  dbSNP: rs1165407566
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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) RCV000593076 SCV000704556 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062043 SCV002437775 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-07-19 criteria provided, single submitter clinical testing

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