ClinVar Miner

Submissions for variant NM_058174.3(COL6A2):c.1817-4_1817-3dup (rs149954350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000388843 SCV000344881 likely benign not specified 2016-09-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377799 SCV000436719 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286795 SCV000436720 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559178 SCV000657122 benign not provided 2019-02-05 criteria provided, single submitter clinical testing

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