ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1356G>T (p.Arg452=)

gnomAD frequency: 0.00002  dbSNP: rs1180957953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874889 SCV001017123 likely benign Multiple endocrine neoplasia, type 1 2023-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381998 SCV002691776 likely benign Hereditary cancer-predisposing syndrome 2021-02-02 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.

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