ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.286T>C (p.Leu96=)

gnomAD frequency: 0.00024  dbSNP: rs140268765
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705483 SCV000513319 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Invitae RCV000540551 SCV000645052 likely benign Koolen-de Vries syndrome 2021-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000540551 SCV002813005 likely benign Koolen-de Vries syndrome 2022-03-30 criteria provided, single submitter clinical testing

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