ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.1345T>C (p.Trp449Arg)

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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 RCV002951340 SCV003677313 likely benign Inborn genetic diseases 2022-08-02 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.
Fulgent Genetics, Fulgent Genetics RCV005011159 SCV005632534 uncertain significance Intellectual disability, autosomal dominant 40 2024-01-22 criteria provided, single submitter clinical testing

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