ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.531T>C (p.Asn177=)

gnomAD frequency: 0.00005  dbSNP: rs759846708
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536891 SCV000645063 likely benign Koolen-de Vries syndrome 2023-12-18 criteria provided, single submitter clinical testing

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