ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4221+119A>G

gnomAD frequency: 0.08837  dbSNP: rs1814333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829643 SCV000971374 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 RCV001527265 SCV001738223 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829643 SCV005240219 benign not provided criteria provided, single submitter not provided

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