ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg)

gnomAD frequency: 0.00032  dbSNP: rs74867664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126399 SCV000169903 benign not specified 2014-04-16 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 RCV000475417 SCV000559739 benign Koolen-de Vries syndrome 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000475417 SCV002796714 likely benign Koolen-de Vries syndrome 2021-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003407535 SCV004140733 benign not provided 2023-09-01 criteria provided, single submitter clinical testing KANSL1: BP4, BS1, BS2

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