ClinVar Miner

Submissions for variant NM_020975.6(RET):c.468C>T (p.Ala156=)

gnomAD frequency: 0.00173  dbSNP: rs141290380
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200388 SCV000252851 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561761 SCV000664499 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 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.
GeneDx RCV000607836 SCV000729534 likely benign not specified 2017-11-02 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.
Sema4, Sema4 RCV000561761 SCV002527913 likely benign Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002500618 SCV002809666 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2022-05-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000200388 SCV004357218 benign Multiple endocrine neoplasia, type 2 2022-10-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736636 SCV004564980 benign not provided 2023-06-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607836 SCV004803319 benign not specified 2024-01-13 criteria provided, single submitter clinical testing

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