ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1197G>A (p.Pro399_Val400=)

gnomAD frequency: 0.00086  dbSNP: rs148371113
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163896 SCV000214488 likely benign Hereditary cancer-predisposing syndrome 2014-10-20 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.
Invitae RCV001079831 SCV000253554 benign Multiple endocrine neoplasia, type 2 2021-12-17 criteria provided, single submitter clinical testing
Counsyl RCV000410397 SCV000489985 likely benign Multiple endocrine neoplasia, type 2b 2016-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000411900 SCV000489986 likely benign Multiple endocrine neoplasia, type 2a 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000679712 SCV000730533 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15744028, 17088437)
PreventionGenetics,PreventionGenetics RCV000679712 SCV000806997 likely benign not provided 2017-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731412 SCV001983653 benign not specified 2021-09-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001731412 SCV002065730 likely benign not specified 2020-12-03 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000163896 SCV002529917 likely benign Hereditary cancer-predisposing syndrome 2021-04-01 criteria provided, single submitter curation

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