ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.957+1G>A

dbSNP: rs886044535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396948 SCV000345302 pathogenic not provided 2016-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850475 SCV002241864 pathogenic Bethlem myopathy 1A 2021-07-12 criteria provided, single submitter clinical testing

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