ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.12G>A (p.Met4Ile)

gnomAD frequency: 0.00007  dbSNP: rs146472353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721480 SCV000536100 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Invitae RCV000644668 SCV000766371 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing

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