ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.912C>T (p.Arg304=)

gnomAD frequency: 0.00001  dbSNP: rs1175646397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613243 SCV000723218 likely benign not specified 2017-09-26 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 RCV001471758 SCV001675874 likely benign Koolen-de Vries syndrome 2021-08-04 criteria provided, single submitter clinical testing

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