ClinVar Miner

Submissions for variant NM_020975.6(RET):c.200G>A (p.Arg67His)

gnomAD frequency: 0.00036  dbSNP: rs192489011
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080638 SCV000261427 benign Multiple endocrine neoplasia, type 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393823 SCV000362226 likely benign Pheochromocytoma 2018-06-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000311573 SCV000362227 likely benign Multiple endocrine neoplasia 2018-06-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000368621 SCV000362228 likely benign Renal hypodysplasia/aplasia 1 2018-06-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000271726 SCV000362229 likely benign Hirschsprung disease, susceptibility to, 1 2018-06-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000034768 SCV000610899 likely benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563975 SCV000674752 benign Hereditary cancer-predisposing syndrome 2015-01-07 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.
PreventionGenetics, part of Exact Sciences RCV000121986 SCV000807018 benign not specified 2017-05-04 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002307371 SCV000890954 likely benign MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 2022-11-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121986 SCV002067190 benign not specified 2021-01-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563975 SCV002529960 likely benign Hereditary cancer-predisposing syndrome 2021-03-08 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121986 SCV002572021 likely benign not specified 2022-08-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001080638 SCV004357215 benign Multiple endocrine neoplasia, type 2 2022-09-29 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034768 SCV000043468 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121986 SCV000086197 not provided not specified 2013-09-19 no assertion provided reference population

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