ClinVar Miner

Submissions for variant NM_020975.6(RET):c.693C>T (p.Arg231=) (rs576806329)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123325 SCV000166632 benign Multiple endocrine neoplasia, type 2 2017-12-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391410 SCV000362266 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302880 SCV000362267 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355396 SCV000362268 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263104 SCV000362269 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000412200 SCV000489743 likely benign Multiple endocrine neoplasia, type 2b 2015-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000409807 SCV000489744 likely benign Multiple endocrine neoplasia, type 2a 2015-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568383 SCV000674787 likely benign Hereditary cancer-predisposing syndrome 2016-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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