ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1118C>T (p.Ala373Val) (rs546866208)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662764 SCV000785560 likely benign Multiple endocrine neoplasia, type 2a 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000607370 SCV000730532 likely benign not specified 2017-12-12 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 RCV000401362 SCV000362283 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281539 SCV000362284 likely benign Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338812 SCV000362285 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393682 SCV000362286 likely benign Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168246 SCV000218917 benign Multiple endocrine neoplasia, type 2 2017-12-20 criteria provided, single submitter clinical testing

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