ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2976G>A (p.Pro992=) (rs528823385)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119173 SCV000153904 benign Multiple endocrine neoplasia, type 2 2018-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164076 SCV000214686 likely benign Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374727 SCV000362380 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294401 SCV000362381 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330738 SCV000362382 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387641 SCV000362383 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000431966 SCV000526964 likely benign not specified 2016-04-20 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 RCV000431966 SCV000807041 benign not specified 2017-05-15 criteria provided, single submitter clinical testing

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