ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser)

dbSNP: rs2146357893
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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 RCV001980267 SCV002268473 benign Koolen-de Vries syndrome 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001980267 SCV005644105 uncertain significance Koolen-de Vries syndrome 2024-06-17 criteria provided, single submitter clinical testing

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