ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)

dbSNP: rs587779696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477259 SCV002800276 likely pathogenic Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-20 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087694 SCV000120586 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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