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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000205420 SCV000262313 benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121997 SCV000313714 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307925 SCV000362307 likely benign Hirschsprung disease 1 2018-02-20 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.
ITMI RCV000121997 SCV000086208 not provided not specified 2013-09-19 no assertion provided reference population

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