ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1438G>A (p.Glu480Lys) (rs537874538)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570658 SCV000674799 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Counsyl RCV000409013 SCV000489735 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000410596 SCV000489736 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-04 criteria provided, single submitter clinical testing
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000758696 SCV000886468 likely pathogenic Hirschsprung disease 1 2019-02-22 criteria provided, single submitter research
ITMI RCV000121996 SCV000086207 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000461515 SCV000556199 likely benign Multiple endocrine neoplasia, type 2 2017-04-28 criteria provided, single submitter clinical testing

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