ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)

gnomAD frequency: 0.00010  dbSNP: rs771796347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705000 SCV000241339 likely benign not provided 2019-09-17 criteria provided, single submitter clinical testing
Invitae RCV001063200 SCV001228036 benign Koolen-de Vries syndrome 2021-07-12 criteria provided, single submitter clinical testing

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