ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=)

gnomAD frequency: 0.00004  dbSNP: rs369948305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460028 SCV001663889 likely benign Bethlem myopathy 1 2023-12-25 criteria provided, single submitter clinical testing

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