ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr)

gnomAD frequency: 0.00001  dbSNP: rs760858324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235026 SCV000952265 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001553030 SCV001773827 uncertain significance not provided 2020-10-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as variant of uncertain significance (ClinVar Variant ID# 655722; Landrum et al., 2016)

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