ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)

dbSNP: rs760224197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435904 SCV000513327 likely benign not specified 2016-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001393057 SCV001594709 likely benign Koolen-de Vries syndrome 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001393057 SCV002802520 likely benign Koolen-de Vries syndrome 2022-03-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422288 SCV004140738 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KANSL1: BP4, BP7

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