ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=)

dbSNP: rs2106325082
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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 RCV001484093 SCV001688501 likely benign Bethlem myopathy 1A 2020-08-02 criteria provided, single submitter clinical testing

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