ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.204G>T (p.Val68=)

gnomAD frequency: 0.00001  dbSNP: rs1560568801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713239 SCV000843825 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001422138 SCV001624679 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-20 criteria provided, single submitter clinical testing

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