ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2037C>T (p.Pro679=) (rs55862116)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123306 SCV000166613 benign Multiple endocrine neoplasia, type 2 2018-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291595 SCV000362324 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346555 SCV000362325 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398382 SCV000362326 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302566 SCV000362327 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433393 SCV000515889 likely benign not specified 2018-02-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000433393 SCV000605034 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575514 SCV000674771 likely benign Hereditary cancer-predisposing syndrome 2015-06-14 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000433393 SCV000788303 benign not specified 2018-05-04 no assertion criteria provided literature only Single French individual report: MTC at 45 yr. This silent variant is described as likely benign. GnomAD frequency 0.11%, fairly common for uncommon disease, likely benign (gnomad.broadinstitute.org/gene/ENSG00000165731).

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