ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)

gnomAD frequency: 0.00002  dbSNP: rs766291321
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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) RCV000290715 SCV000338636 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521938 SCV003196873 likely benign Bethlem myopathy 1A 2023-07-08 criteria provided, single submitter clinical testing

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