ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2330A>G (p.Asn777Ser) (rs377767415)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709121 SCV000838399 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021846 SCV000042512 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only Single family report, 4 have the variant genotype: 1 MTC (60 yr). In vitro studies: low RET activity.

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