ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2985G>A (p.Arg995=)

dbSNP: rs1252674267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401269 SCV001603091 likely benign Multiple endocrine neoplasia, type 2 2022-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499850 SCV002808796 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355457 SCV004056408 likely benign Hereditary cancer-predisposing syndrome 2023-07-21 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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