ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.460+150A>G

gnomAD frequency: 0.19499  dbSNP: rs57229705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839010 SCV000980888 benign not provided 2018-06-14 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 RCV001527158 SCV001738091 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing

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