ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2844C>T (p.Val948=)

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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 RCV002647892 SCV003524248 likely benign Bethlem myopathy 1A 2022-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004585001 SCV005074497 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7

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