ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3680-4G>A

gnomAD frequency: 0.00024  dbSNP: rs376123972
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292297 SCV000344195 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085487 SCV001014765 benign Bethlem myopathy 1A 2024-07-03 criteria provided, single submitter clinical testing

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