ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)

gnomAD frequency: 0.00009  dbSNP: rs138683303
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) RCV000593499 SCV000702513 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653643 SCV000775526 likely benign Bethlem myopathy 1A 2024-01-07 criteria provided, single submitter clinical testing

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