ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1529C>T (p.Ala510Val) (rs201745826)

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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 RCV000166168 SCV000216943 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing Conflicting evidence
Invitae RCV001083604 SCV000218864 likely benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679718 SCV000807006 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000709114 SCV000838384 benign Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021763 SCV000042429 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only Single French individual report: MTC only (55 yr). Two unrelated French individual reports: 75 yr and 69 yr with MTC (PMID 28946813). GnomAD frequency 0.026%, fairly common for uncommon disease (gnomad.broadinstitute.org/gene/ENSG00000165731).

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