ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.498C>T (p.Thr166=)

gnomAD frequency: 0.00001  dbSNP: rs762436629
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 RCV000964575 SCV001111796 likely benign Bethlem myopathy 1 2023-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438632 SCV004149931 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL6A2: BP4, BP7

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