ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.244-21T>C

gnomAD frequency: 0.43577  dbSNP: rs225170
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250051 SCV000303099 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829190 SCV000970905 benign not provided 2018-06-19 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.
Pars Genome Lab RCV001527527 SCV001738593 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527527 SCV002055171 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001527527 SCV004556962 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-03-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829190 SCV005299625 benign not provided criteria provided, single submitter not provided

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