ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.572C>T (p.Ala191Val)

gnomAD frequency: 0.00004  dbSNP: rs747347320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068737 SCV001233867 uncertain significance Bethlem myopathy 1 2021-09-01 criteria provided, single submitter clinical testing

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