ClinVar Miner

Submissions for variant NM_020975.6(RET):c.144G>A (p.Thr48=)

gnomAD frequency: 0.00002  dbSNP: rs759872307
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086694 SCV000253555 likely benign Multiple endocrine neoplasia, type 2 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000827021 SCV000968632 likely benign not provided 2018-05-03 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 RCV001011645 SCV001171991 likely benign Hereditary cancer-predisposing syndrome 2019-09-28 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.
Fulgent Genetics, Fulgent Genetics RCV002503779 SCV002801770 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541278 SCV004771191 likely benign RET-related disorder 2020-01-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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