ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)

gnomAD frequency: 0.00006  dbSNP: rs200103894
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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 RCV000226120 SCV000286309 likely benign Koolen-de Vries syndrome 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001651088 SCV001864297 benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000226120 SCV002794704 likely benign Koolen-de Vries syndrome 2021-12-17 criteria provided, single submitter clinical testing

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