ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)

dbSNP: rs1574695218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087741 SCV001090777 likely benign Bethlem myopathy 1A 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000944796 SCV001153367 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing

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