ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr)

gnomAD frequency: 0.00004  dbSNP: rs780371904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576895 SCV001804169 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001576895 SCV002139546 benign not provided 2024-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570807 SCV003721173 likely benign Inborn genetic diseases 2022-12-01 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.
Revvity Omics, Revvity RCV003485722 SCV004236539 uncertain significance Smith-Magenis syndrome 2023-06-14 criteria provided, single submitter clinical testing

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