ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1893C>T (p.Asp631=)

gnomAD frequency: 0.00013  dbSNP: rs55846256
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231749 SCV000290538 likely benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000431175 SCV000536032 likely benign not specified 2017-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000567099 SCV000674807 likely benign Hereditary cancer-predisposing syndrome 2015-11-06 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.
Counsyl RCV000663255 SCV000786482 likely benign Multiple endocrine neoplasia, type 2a 2018-05-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000567099 SCV002529952 benign Hereditary cancer-predisposing syndrome 2021-09-10 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000663255 SCV004018478 benign Multiple endocrine neoplasia, type 2a 2023-04-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen RCV003415727 SCV004127597 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing RET: BP4, BP7

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