ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5004-37C>T

gnomAD frequency: 0.79706  dbSNP: rs2303599
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250447 SCV000309694 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000839722 SCV000981626 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 RCV001527269 SCV001738227 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660239 SCV001875868 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660238 SCV001875869 benign Distal myopathy with anterior tibial onset 2021-07-30 criteria provided, single submitter clinical testing

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