ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile)

gnomAD frequency: 0.00087  dbSNP: rs117412152
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705575 SCV000513326 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Invitae RCV000459228 SCV000559734 benign Koolen-de Vries syndrome 2021-12-09 criteria provided, single submitter clinical testing

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