ClinVar Miner

Submissions for variant NM_020975.6(RET):c.957C>A (p.Leu319=) (rs149926238)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163298 SCV000213826 likely benign Hereditary cancer-predisposing syndrome 2014-07-08 criteria provided, single submitter clinical testing
Invitae RCV000199825 SCV000253569 likely benign Multiple endocrine neoplasia, type 2 2017-12-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275161 SCV000362275 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327857 SCV000362276 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384830 SCV000362277 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288125 SCV000362278 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679757 SCV000807065 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000679757 SCV000968684 likely benign not provided 2018-05-03 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.

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