ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.33A>G (p.Ala11=)

gnomAD frequency: 0.00001  dbSNP: rs769676607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001480912 SCV001685243 likely benign Koolen-de Vries syndrome 2019-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001480912 SCV005644183 uncertain significance Koolen-de Vries syndrome 2024-02-12 criteria provided, single submitter clinical testing

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