ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.33+16C>A

gnomAD frequency: 0.00004  dbSNP: rs765157791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613457 SCV000727775 likely benign not specified 2018-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531644 SCV003246054 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-31 criteria provided, single submitter clinical testing

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