ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.141C>T (p.Leu47=)

dbSNP: rs1877869527
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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 RCV002102666 SCV002388245 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-12-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999640 SCV005622419 likely benign not specified 2024-06-04 criteria provided, single submitter clinical testing

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