ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)

dbSNP: rs398124129
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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) RCV000080970 SCV000112877 uncertain significance not provided 2012-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514420 SCV002983086 likely benign Bethlem myopathy 1A 2022-07-22 criteria provided, single submitter clinical testing

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