ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1760-12G>A (rs377767392)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315977 SCV000362316 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375196 SCV000362317 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261911 SCV000362318 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330417 SCV000362319 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000663117 SCV000786246 likely benign Multiple endocrine neoplasia, type 2a 2018-03-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679724 SCV000807013 likely benign not provided 2018-01-04 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021771 SCV000042437 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only Single individual report: metastatic MTC (68 yr). Reference called sequence change, IVS9-11G>A, using RET GenBank sequence AJ243297.

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