ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) (rs200023632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153081 SCV000202537 likely benign not specified 2017-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318495 SCV000436529 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653627 SCV000775510 likely benign Bethlem myopathy 1 2017-12-04 criteria provided, single submitter clinical testing

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