ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)

gnomAD frequency: 0.00001  dbSNP: rs572018781
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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) RCV000303909 SCV000343291 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059255 SCV002440182 likely benign Bethlem myopathy 1A 2022-02-28 criteria provided, single submitter clinical testing

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