ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)

dbSNP: rs149203102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659474 SCV000781289 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000659474 SCV000895375 uncertain significance Connective tissue disorder 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001756115 SCV001995479 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 547287; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001868175 SCV002300100 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-12-05 criteria provided, single submitter clinical testing

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