ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)

gnomAD frequency: 0.00002  dbSNP: rs770738115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000863167 SCV000520424 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714716 SCV000845442 uncertain significance Koolen-de Vries syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000714716 SCV001698858 likely benign Koolen-de Vries syndrome 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022338 SCV004889142 likely benign Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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