ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1938C>T (p.Pro646=)

gnomAD frequency: 0.00070  dbSNP: rs371047711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126394 SCV000169898 benign not specified 2014-04-03 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.
Invitae RCV001079685 SCV000766391 benign Koolen-de Vries syndrome 2022-11-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000644688 SCV001144290 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001079685 SCV002811425 likely benign Koolen-de Vries syndrome 2021-10-23 criteria provided, single submitter clinical testing

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