ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.237T>C (p.Ala79=)

gnomAD frequency: 0.00002  dbSNP: rs747312241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977370 SCV001125286 likely benign Bethlem myopathy 1A 2019-05-29 criteria provided, single submitter clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002298808 SCV002586278 uncertain significance Dystonia 27 2022-10-22 criteria provided, single submitter clinical testing

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