ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5414C>T (p.Pro1805Leu)

dbSNP: rs1391386241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566113 SCV001789586 uncertain significance not provided 2019-01-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Natera, Inc. RCV001827489 SCV002079232 uncertain significance Epidermolysis bullosa dystrophica 2021-08-04 no assertion criteria provided clinical testing

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