ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)

gnomAD frequency: 0.00002  dbSNP: rs950115468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596888 SCV000706791 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000596888 SCV003833764 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003631138 SCV004538865 benign Bethlem myopathy 1A 2025-01-01 criteria provided, single submitter clinical testing

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