ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)

gnomAD frequency: 0.00038  dbSNP: rs142236686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862354 SCV001002850 benign Oculofaciocardiodental syndrome 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332766 SCV002634035 likely benign Inborn genetic diseases 2021-07-13 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.
Fulgent Genetics, Fulgent Genetics RCV002507471 SCV002802573 likely benign Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome 2022-04-20 criteria provided, single submitter clinical testing

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