ClinVar Miner

Submissions for variant NM_020975.6(RET):c.337+12G>A (rs200468424)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410692 SCV000489759 likely benign Multiple endocrine neoplasia, type 2b 2015-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000411730 SCV000489760 likely benign Multiple endocrine neoplasia, type 2a 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000605249 SCV000724888 likely benign not specified 2017-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000351814 SCV000362242 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390153 SCV000362243 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312273 SCV000362244 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346124 SCV000362245 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000605249 SCV000711343 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 337+12G>A in intron 2 of RET: This variant is not expected to have clinical sign ificance because it is not located within the conserved splice consensus sequenc e. It has been identified in 0.5% (21/4388) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS; dbSNP rs200468424).

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