ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2988G>A (p.Pro996=) (rs145798106)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199267 SCV000253566 likely benign not provided 2018-12-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253581 SCV000313725 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288556 SCV000362384 uncertain significance Renal hypodysplasia/aplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345815 SCV000362385 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395274 SCV000362386 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291942 SCV000362387 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569522 SCV000674793 likely benign Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000253581 SCV000718318 likely benign not specified 2017-04-11 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.
Counsyl RCV000662488 SCV000784993 likely benign Multiple endocrine neoplasia, type 2a 2017-03-03 criteria provided, single submitter clinical testing

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