ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)

gnomAD frequency: 0.00001  dbSNP: rs894679602
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001088916 SCV000775532 likely benign Bethlem myopathy 1A 2022-07-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733876 SCV000861979 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing

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