ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4114-18_4114-17del

dbSNP: rs1440458273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605592 SCV000725117 likely benign not specified 2017-11-22 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001167 SCV001158318 likely benign Ehlers-Danlos syndrome, classic type, 2 2019-04-12 criteria provided, single submitter clinical testing
Invitae RCV003758884 SCV004524189 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-19 criteria provided, single submitter clinical testing

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