ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)

dbSNP: rs887190843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233656 SCV000826924 benign Ehlers-Danlos syndrome, classic type, 1 2022-07-05 criteria provided, single submitter clinical testing
GeneDx RCV003324788 SCV004030579 uncertain significance not provided 2023-02-27 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; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)
New York Genome Center RCV002233656 SCV004176066 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-07-17 criteria provided, single submitter clinical testing

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