ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2088G>A (p.Ser696=) (rs150329150)

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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 RCV000572256 SCV000674742 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000612709 SCV000718357 likely benign not specified 2017-05-08 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 RCV000286968 SCV000362344 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342100 SCV000362345 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400174 SCV000362346 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297432 SCV000362347 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000198466 SCV000252847 benign Multiple endocrine neoplasia, type 2 2018-01-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000612709 SCV000807021 benign not specified 2017-01-13 criteria provided, single submitter clinical testing

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