ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.720C>T (p.His240=)

gnomAD frequency: 0.00003  dbSNP: rs763803023
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
Invitae RCV000918721 SCV001064040 likely benign Bethlem myopathy 1 2022-05-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438589 SCV004149932 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing COL6A2: BP4, BP7

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