ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1185A>G (p.Glu395=)

gnomAD frequency: 0.00004  dbSNP: rs199820469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560120 SCV000645025 likely benign Koolen-de Vries syndrome 2021-05-21 criteria provided, single submitter clinical testing
GeneDx RCV001584297 SCV001812614 likely benign not provided 2019-05-22 criteria provided, single submitter clinical testing

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