ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.744A>G (p.Leu248=)

gnomAD frequency: 0.00001  dbSNP: rs748000142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444616 SCV000513322 likely benign not specified 2015-11-10 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 RCV001471955 SCV001676079 likely benign Koolen-de Vries syndrome 2022-06-27 criteria provided, single submitter clinical testing

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