ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.701T>C (p.Val234Ala)

gnomAD frequency: 0.00011  dbSNP: rs199948200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705482 SCV000525932 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing
Invitae RCV000694560 SCV000823011 likely benign Koolen-de Vries syndrome 2021-07-12 criteria provided, single submitter clinical testing

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