ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2445+19A>G

dbSNP: rs776819930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788563 SCV000927716 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000788563 SCV000984223 likely benign not provided 2018-04-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002535781 SCV002940180 likely benign Ehlers-Danlos syndrome, type 4 2023-08-27 criteria provided, single submitter clinical testing

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