ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2001A>T (p.Pro667=)

gnomAD frequency: 0.00004  dbSNP: rs563316790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123305 SCV000166612 likely benign Multiple endocrine neoplasia, type 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014049 SCV001174708 benign Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter clinical testing This alteration is classified as 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.
All of Us Research Program, National Institutes of Health RCV000123305 SCV004815148 likely benign Multiple endocrine neoplasia, type 2 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004791274 SCV005403655 likely benign Multiple endocrine neoplasia type 2A 2024-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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