ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.765C>T (p.Ile255=)

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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 RCV003621027 SCV004430009 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-16 criteria provided, single submitter clinical testing

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