ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4113+16del

dbSNP: rs779762130
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607267 SCV000726526 likely benign not specified 2018-01-09 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 RCV003758886 SCV004553583 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-09-12 criteria provided, single submitter clinical testing

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