ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.708C>T (p.Gly236=)

gnomAD frequency: 0.00004  dbSNP: rs770295146
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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) RCV000596925 SCV000701798 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854003 SCV002195614 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-06 criteria provided, single submitter clinical testing

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