ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.735+7G>A

gnomAD frequency: 0.00004  dbSNP: rs575365107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403400 SCV000341913 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555408 SCV000657219 likely benign Bethlem myopathy 1A 2025-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535404 SCV004736198 likely benign COL6A2-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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