ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)

gnomAD frequency: 0.00001  dbSNP: rs1322831151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893521 SCV002167973 likely benign Koolen-de Vries syndrome 2023-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001893521 SCV002776770 uncertain significance Koolen-de Vries syndrome 2021-07-09 criteria provided, single submitter clinical testing

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