ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6817-6G>A

dbSNP: rs886042773
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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) RCV000364851 SCV000336482 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003631103 SCV004475896 likely benign Bethlem myopathy 1A 2022-12-22 criteria provided, single submitter clinical testing

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