ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2847A>G (p.Gly949=)

dbSNP: rs886046989
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351301 SCV000362368 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399319 SCV000362369 uncertain significance Renal hypodysplasia/aplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307108 SCV000362370 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366161 SCV000362371 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000988349 SCV001138035 likely benign Multiple endocrine neoplasia type 2A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001453964 SCV001657674 likely benign Multiple endocrine neoplasia, type 2 2023-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436139 SCV002748141 likely benign Hereditary cancer-predisposing syndrome 2021-02-08 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.

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