ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2159G>A (p.Arg720His)

gnomAD frequency: 0.00032  dbSNP: rs148825937
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721201 SCV000241379 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Invitae RCV000644696 SCV000766399 benign Koolen-de Vries syndrome 2021-10-27 criteria provided, single submitter clinical testing

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