ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=)

dbSNP: rs749456336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418254 SCV000532736 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003522975 SCV004369179 likely benign Ehlers-Danlos syndrome, type 4 2023-07-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003522975 SCV004819792 likely benign Ehlers-Danlos syndrome, type 4 2023-03-09 criteria provided, single submitter clinical testing

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