ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val)

gnomAD frequency: 0.00036  dbSNP: rs151099014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423429 SCV000510976 likely benign not provided 2016-11-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000423429 SCV000513328 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Invitae RCV001083256 SCV000645044 benign Koolen-de Vries syndrome 2024-01-27 criteria provided, single submitter clinical testing

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