ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)

dbSNP: rs759052298
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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) RCV000733161 SCV000861191 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067145 SCV002357451 likely benign Bethlem myopathy 1A 2022-02-10 criteria provided, single submitter clinical testing

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