ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.111C>T (p.Asn37=)

dbSNP: rs2109376000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396067 SCV001597787 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-06-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001396067 SCV003827601 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-09-14 criteria provided, single submitter clinical testing

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