ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1326G>A (p.Val442=)

gnomAD frequency: 0.00451  dbSNP: rs148308622
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313563 SCV000848649 benign Inborn genetic diseases 2017-01-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510200 SCV001717182 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001510200 SCV001910157 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983175 SCV004796726 benign RAI1-related disorder 2019-05-08 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV001510200 SCV005212272 likely benign not provided criteria provided, single submitter not provided

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