ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)

dbSNP: rs375924639
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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) RCV000728219 SCV000855765 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067083 SCV002369736 likely benign Bethlem myopathy 1A 2024-12-31 criteria provided, single submitter clinical testing

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