ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1522+35C>T (rs377130948)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227098 SCV000290531 likely benign Multiple endocrine neoplasia, type 2 2016-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000410817 SCV000490017 likely benign Multiple endocrine neoplasia, type 2b 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000412335 SCV000490018 likely benign Multiple endocrine neoplasia, type 2a 2016-09-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000456055 SCV000540173 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This in an intronic variant at +35. It is classified in ClinVar as Likely benign by Invitae. It has a MaxMAF in ExAC of 0.05% (2 Finnish alleles and 14 non-Finnish European alleles). It has been reported in one individual with Hirschprung disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000456055 SCV001158294 likely benign not specified 2019-04-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172033 SCV001334962 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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