ClinVar Miner

Submissions for variant NM_020975.6(RET):c.693C>T (p.Arg231=)

gnomAD frequency: 0.00004  dbSNP: rs576806329
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081768 SCV000166632 benign Multiple endocrine neoplasia, type 2 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391410 SCV000362266 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302880 SCV000362267 uncertain significance Renal hypodysplasia/aplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355396 SCV000362268 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263104 SCV000362269 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000412200 SCV000489743 likely benign Multiple endocrine neoplasia type 2B 2015-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000409807 SCV000489744 likely benign Multiple endocrine neoplasia type 2A 2015-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568383 SCV000674787 likely benign Hereditary cancer-predisposing syndrome 2016-04-13 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.
CeGaT Center for Human Genetics Tuebingen RCV000123325 SCV001147862 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568383 SCV002527922 likely benign Hereditary cancer-predisposing syndrome 2021-03-31 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV001081768 SCV004357222 likely benign Multiple endocrine neoplasia, type 2 2022-11-06 criteria provided, single submitter clinical testing

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