ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1671A>G (p.Ala557=)

gnomAD frequency: 0.00001  dbSNP: rs769241683
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943660 SCV001089613 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV001418932 SCV001621175 likely benign Koolen-de Vries syndrome 2018-08-07 criteria provided, single submitter clinical testing

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