ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=)

dbSNP: rs1017491163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326093 SCV001517107 likely benign Bethlem myopathy 1A 2023-09-22 criteria provided, single submitter clinical testing

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