ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1830C>T (p.Ile610=)

gnomAD frequency: 0.00003  dbSNP: rs150800846
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 RCV002171417 SCV002427918 likely benign Koolen-de Vries syndrome 2023-07-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002171417 SCV002806367 likely benign Koolen-de Vries syndrome 2021-10-28 criteria provided, single submitter clinical testing

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