ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3852+9C>T

gnomAD frequency: 0.00008  dbSNP: rs548696863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234473 SCV000756015 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-07-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680507 SCV000807891 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing

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