ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)

gnomAD frequency: 0.00042  dbSNP: rs149566146
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705004 SCV000241355 benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000187758 SCV000613822 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000544966 SCV000645064 benign Koolen-de Vries syndrome 2022-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000544966 SCV002801868 likely benign Koolen-de Vries syndrome 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514012 SCV003653427 likely benign Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001705004 SCV004009812 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KANSL1: BP4

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