ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)

gnomAD frequency: 0.00053  dbSNP: rs34756740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705006 SCV000241359 benign not provided 2021-02-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29352316)
Invitae RCV000549729 SCV000645067 likely benign Koolen-de Vries syndrome 2021-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000549729 SCV002813541 likely benign Koolen-de Vries syndrome 2021-11-05 criteria provided, single submitter clinical testing

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