ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)

gnomAD frequency: 0.00002  dbSNP: rs371075249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733326 SCV000861376 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517262 SCV004354797 likely benign Bethlem myopathy 1A 2024-12-15 criteria provided, single submitter clinical testing

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