ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3258+7C>A

gnomAD frequency: 0.00002  dbSNP: rs750710374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659450 SCV000781265 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002235527 SCV001006745 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-05 criteria provided, single submitter clinical testing

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