ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.354T>G (p.Thr118=)

gnomAD frequency: 0.00004  dbSNP: rs751592191
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002068655 SCV002494909 likely benign Bethlem myopathy 1A 2023-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432896 SCV004147363 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7

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