ClinVar Miner

Submissions for variant NM_020975.6(RET):c.200G>A (p.Arg67His) (rs192489011)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563975 SCV000674752 benign Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
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.
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
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761039 SCV000890954 uncertain significance B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy 2016-05-11 no assertion criteria provided clinical testing
ITMI RCV000121986 SCV000086197 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000393823 SCV000362226 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311573 SCV000362227 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368621 SCV000362228 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271726 SCV000362229 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205314 SCV000261427 benign Multiple endocrine neoplasia, type 2 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121986 SCV000807018 benign not specified 2017-05-04 criteria provided, single submitter clinical testing

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