ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser)

gnomAD frequency: 0.00002  dbSNP: rs139564524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705008 SCV000241365 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Invitae RCV000644683 SCV000766386 benign Koolen-de Vries syndrome 2021-03-06 criteria provided, single submitter clinical testing

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