ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)

gnomAD frequency: 0.00004  dbSNP: rs368285658
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
Invitae RCV002547241 SCV001100489 likely benign Bethlem myopathy 1 2023-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438627 SCV004147342 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7

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