ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.627+18T>G

gnomAD frequency: 0.08711  dbSNP: rs16827109
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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 RCV000251415 SCV000311283 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000128747 SCV001908514 benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Invitae RCV000128747 SCV002478688 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages RCV000128747 SCV000172387 not provided not provided no assertion provided not provided

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