ClinVar Miner

Submissions for variant NM_020975.6(RET):c.539G>A (p.Arg180Gln) (rs370736139)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148786 SCV000190524 uncertain significance Hirschsprung disease 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Invitae RCV000197537 SCV000253568 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Counsyl RCV000412078 SCV000489769 uncertain significance Multiple endocrine neoplasia, type 2b 2015-12-18 criteria provided, single submitter clinical testing
Counsyl RCV000410075 SCV000489770 uncertain significance Multiple endocrine neoplasia, type 2a 2015-12-18 criteria provided, single submitter clinical testing
Mendelics RCV000410075 SCV001138020 benign Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024031 SCV001185984 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-26 criteria provided, single submitter clinical testing Insufficient evidence

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