ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.297A>G (p.Gln99=)

gnomAD frequency: 0.00137  dbSNP: rs34801822
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
Invitae RCV000541892 SCV000645055 benign Koolen-de Vries syndrome 2021-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001653902 SCV001862577 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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