ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr)

dbSNP: rs2077502544
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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 RCV001305068 SCV001494381 uncertain significance Bethlem myopathy 1A 2021-09-01 criteria provided, single submitter clinical testing

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