ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=)

gnomAD frequency: 0.00003  dbSNP: rs752905591
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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 RCV001392612 SCV001594257 likely benign Bethlem myopathy 1A 2016-10-25 criteria provided, single submitter clinical testing

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