ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.819G>A (p.Pro273=)

dbSNP: rs35972733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614187 SCV000716769 likely benign not specified 2017-03-15 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 RCV001426694 SCV001629355 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001426694 SCV003931703 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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