ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2034+18G>C

gnomAD frequency: 0.00005  dbSNP: rs200055343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612874 SCV000717642 likely benign not specified 2017-04-03 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680505 SCV000807889 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063089 SCV002330563 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-07-25 criteria provided, single submitter clinical testing

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