ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.313-39C>A

gnomAD frequency: 0.14899  dbSNP: rs59944537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252521 SCV000301548 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000832018 SCV000973772 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.
Genome-Nilou Lab RCV001527115 SCV001737978 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000832018 SCV005249929 benign not provided criteria provided, single submitter not provided

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