ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)

gnomAD frequency: 0.00005  dbSNP: rs570475423
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 RCV001223492 SCV001395644 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001223492 SCV002779009 uncertain significance Koolen-de Vries syndrome 2021-12-25 criteria provided, single submitter clinical testing

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