ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) (rs76707931)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179403 SCV000231648 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179403 SCV000308733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292195 SCV000373765 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547375 SCV000642367 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000547375 SCV001144480 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000547375 SCV001148358 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing

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