ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.369T>C (p.Tyr123=)

gnomAD frequency: 0.00004  dbSNP: rs371706268
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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) RCV000388855 SCV000342342 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081629 SCV001019863 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-13 criteria provided, single submitter clinical testing

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