ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1417-8G>A (rs202228471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038871 SCV000062549 likely benign not specified 2011-12-13 criteria provided, single submitter clinical testing 1417-8G>A in intron 6 of DFNB31: This variant is not expected to have clinical significance because it is not predicted to impact the splice consensus sequence .
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727381 SCV000708018 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000727381 SCV001611113 likely benign not provided 2020-03-14 criteria provided, single submitter clinical testing

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