ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5068-13G>A

gnomAD frequency: 0.00001  dbSNP: rs761059323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712233 SCV000522459 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002065018 SCV002373283 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-12-22 criteria provided, single submitter clinical testing

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