ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.635A>G (p.His212Arg)

gnomAD frequency: 0.00038  dbSNP: rs141110759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705005 SCV000241357 benign not provided 2021-02-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22544363, 29352316)
Labcorp Genetics (formerly Invitae), Labcorp RCV000644695 SCV000766398 benign Koolen-de Vries syndrome 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000644695 SCV002810767 likely benign Koolen-de Vries syndrome 2021-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629162 SCV005129603 likely benign Inborn genetic diseases 2024-05-22 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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