ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn)

gnomAD frequency: 0.00004  dbSNP: rs771354369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240405 SCV001226953 benign Ehlers-Danlos syndrome, classic type, 1 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001759822 SCV002007567 uncertain significance not provided 2020-08-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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