ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2523G>A (p.Pro841=) (rs56195026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197424 SCV000252849 benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561411 SCV000674869 likely benign Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Counsyl RCV000663049 SCV000786099 likely benign Multiple endocrine neoplasia, type 2a 2018-02-21 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021862 SCV000042528 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only First report, single Japanese individual: MTC only. Second report, p.P841P was found in the germline of a 65yr old gastric cancer patient: No mention of MEN2 screening (PMID 17344846). Likely benign for MEN2 due to silent change.

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