ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2985G>A (p.Pro995=)

gnomAD frequency: 0.00004  dbSNP: rs371484505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427339 SCV000527344 likely benign not specified 2016-05-11 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.
Fulgent Genetics, Fulgent Genetics RCV002502551 SCV002796804 likely benign Koolen-de Vries syndrome 2021-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002502551 SCV002931485 likely benign Koolen-de Vries syndrome 2023-09-10 criteria provided, single submitter clinical testing

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