ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1465G>A (p.Asp489Asn) (rs9282834)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163289 SCV000213817 benign Hereditary cancer-predisposing syndrome 2014-12-01 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
ITMI RCV000121997 SCV000086208 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000307925 SCV000362307 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205420 SCV000262313 benign Multiple endocrine neoplasia, type 2 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121997 SCV000313714 benign not specified criteria provided, single submitter clinical testing

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