ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=)

dbSNP: rs2106319581
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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 RCV001469434 SCV001673514 likely benign Bethlem myopathy 1A 2022-02-09 criteria provided, single submitter clinical testing

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