ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.498A>C (p.Thr166=)

gnomAD frequency: 0.00013  dbSNP: rs141491325
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000543476 SCV000645061 likely benign Koolen-de Vries syndrome 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001598674 SCV001827336 benign not provided 2019-07-12 criteria provided, single submitter clinical testing

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