ClinVar Miner

Submissions for variant NM_020975.6(RET):c.432C>T (p.Arg144=) (rs756999107)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000305840 SCV000362250 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358174 SCV000362251 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265740 SCV000362252 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318616 SCV000362253 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537322 SCV000658483 likely benign Multiple endocrine neoplasia, type 2 2017-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571664 SCV000674845 likely benign Hereditary cancer-predisposing syndrome 2016-01-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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