ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1689C>T (p.Asp563=)

gnomAD frequency: 0.00044  dbSNP: rs113557856
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544090 SCV000645038 likely benign Koolen-de Vries syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001712511 SCV001939528 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000544090 SCV002800257 likely benign Koolen-de Vries syndrome 2021-07-27 criteria provided, single submitter clinical testing

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