ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) (rs144051775)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202790 SCV000257955 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000202790 SCV000331369 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000539163 SCV000528292 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Invitae RCV001083049 SCV000657301 likely benign Bethlem myopathy 1 2020-11-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000539163 SCV001153371 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing

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