ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)

gnomAD frequency: 0.00001  dbSNP: rs727503884
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) RCV000153093 SCV000202550 uncertain significance not provided 2013-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497015 SCV001701729 likely benign Bethlem myopathy 1A 2020-09-11 criteria provided, single submitter clinical testing

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