ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV003494430 SCV004243591 likely pathogenic Bethlem myopathy 1A criteria provided, single submitter clinical testing Homozygous/p.(Gly424Hisfs*147)?

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