ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2728T>G (p.Ser910Ala)

gnomAD frequency: 0.00030  dbSNP: rs745515458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712896 SCV000843447 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316011 SCV000848790 likely benign Inborn genetic diseases 2018-07-27 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.
GeneDx RCV000712896 SCV001938423 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Invitae RCV000712896 SCV002449416 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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