ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)

dbSNP: rs535498742
Minimum review status: Collection method:
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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) RCV000387229 SCV000345084 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442110 SCV001645053 likely benign Bethlem myopathy 1A 2025-01-14 criteria provided, single submitter clinical testing

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