ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2454G>A (p.Glu818=)

dbSNP: rs794727131
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174792 SCV000226160 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764901 SCV000896061 uncertain significance Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001437744 SCV001640607 likely benign Multiple endocrine neoplasia, type 2 2023-10-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255313 SCV002529980 likely benign Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter curation
Ambry Genetics RCV002255313 SCV002732206 likely benign Hereditary cancer-predisposing syndrome 2022-02-28 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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