ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1867G>A (p.Glu623Lys) (rs377767402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575097 SCV000674857 benign Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);Does not segregate with disease in family study (genes with complete penetrance)
Mendelics RCV000988343 SCV001138026 likely benign Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021804 SCV000042470 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only Single individual report: described as having inherited MTC (no patient/clinical information). p.E623K was called a rare silent polymorphism. Single family report, 3 have the variant genotype: all asymptomatic (PMID 15858153). In this family, p.E623K was also found in trans with the p.C618S mutation, see c.[1852T>A];[1867G>A].

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