ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2262G>A (p.Val754=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002180035 SCV002345510 likely benign Koolen-de Vries syndrome 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002180035 SCV002805414 likely benign Koolen-de Vries syndrome 2021-07-09 criteria provided, single submitter clinical testing

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