ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr)

gnomAD frequency: 0.00010  dbSNP: rs150115249
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 RCV002044475 SCV002107653 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002044475 SCV002775357 uncertain significance Koolen-de Vries syndrome 2024-06-20 criteria provided, single submitter clinical testing

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