ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)

gnomAD frequency: 0.00046  dbSNP: rs114338020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249031 SCV000310186 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726380 SCV000344197 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089254 SCV000657337 likely benign Bethlem myopathy 1A 2025-01-27 criteria provided, single submitter clinical testing

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