ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.635A>G (p.His212Arg)

gnomAD frequency: 0.00038  dbSNP: rs141110759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705005 SCV000241357 benign not provided 2021-02-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22544363, 29352316)
Invitae RCV000644695 SCV000766398 benign Koolen-de Vries syndrome 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000644695 SCV002810767 likely benign Koolen-de Vries syndrome 2021-11-19 criteria provided, single submitter clinical testing

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