ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.829T>C (p.Leu277=)

dbSNP: rs745818288
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462649 SCV001666573 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-05-12 criteria provided, single submitter clinical testing

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