ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)

dbSNP: rs773820329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882913 SCV002138488 likely benign Bethlem myopathy 1A 2024-12-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146292 SCV003834597 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing

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