ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6966+10C>G

gnomAD frequency: 0.00001  dbSNP: rs995436631
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) RCV000729931 SCV000857633 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001443396 SCV001646366 likely benign Bethlem myopathy 1A 2020-09-21 criteria provided, single submitter clinical testing

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