ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2070C>T (p.Ser690=) (rs201550433)

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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 RCV000333157 SCV000362336 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387715 SCV000362337 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270886 SCV000362338 uncertain significance Renal hypodysplasia/aplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325905 SCV000362339 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542961 SCV000658435 likely benign not provided 2018-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574739 SCV000674854 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Counsyl RCV000662709 SCV000785457 likely benign Multiple endocrine neoplasia, type 2a 2017-08-23 criteria provided, single submitter clinical testing

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