ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.1629T>C (p.Asp543=)

gnomAD frequency: 0.00002  dbSNP: rs377080076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318687 SCV000849976 likely benign Inborn genetic diseases 2016-06-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000959746 SCV001106669 likely benign Cornelia de Lange syndrome 4 2024-11-25 criteria provided, single submitter clinical testing

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