ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.889-34C>T

gnomAD frequency: 0.01903  dbSNP: rs115184725
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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 RCV000244215 SCV000309707 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527163 SCV001738096 likely benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001548570 SCV001768503 likely benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001548570 SCV005257032 likely benign not provided criteria provided, single submitter not provided

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