ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2052G>A (p.Pro684=) (rs145122337)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232497 SCV000290541 benign Multiple endocrine neoplasia, type 2 2018-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263785 SCV000362332 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300341 SCV000362333 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369018 SCV000362334 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273369 SCV000362335 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566200 SCV000664474 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000616095 SCV000725763 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000679726 SCV000807019 likely benign not provided 2016-11-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000616095 SCV000788304 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only Single French individual report: MTC at 75 yr. This silent variant is described as likely benign. GnomAD frequency 0.025%, fairly common for uncommon disease, likely benign. (gnomad.broadinstitute.org/gene/ENSG00000165731).

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