ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.594-41A>G

gnomAD frequency: 0.01863  dbSNP: rs56009798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243097 SCV000303495 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711530 SCV001945358 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711530 SCV005216750 likely benign not provided criteria provided, single submitter not provided

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