ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) (rs145144233)

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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 RCV000389939 SCV000373730 uncertain significance Osteopetrosis 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625145 SCV000743872 likely benign Osteopetrosis autosomal recessive 1 2017-11-20 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625145 SCV000745299 likely benign Osteopetrosis autosomal recessive 1 2017-10-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658610 SCV000780388 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000658610 SCV000857757 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000658610 SCV001035723 likely benign not provided 2019-02-23 criteria provided, single submitter clinical testing

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