ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser)

dbSNP: rs765213873
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418540 SCV000518355 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560697 SCV000645062 likely benign Koolen-de Vries syndrome 2024-05-20 criteria provided, single submitter clinical testing

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