ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)

gnomAD frequency: 0.00001  dbSNP: rs574912582
Minimum review status: Collection method:
Minimum conflict level:
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) RCV000331067 SCV000344708 benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873074 SCV001015003 benign Bethlem myopathy 1A 2024-12-08 criteria provided, single submitter clinical testing

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