ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1923+11A>G

gnomAD frequency: 0.00003  dbSNP: rs368776400
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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 RCV000680516 SCV000807903 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003594020 SCV004250307 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-12 criteria provided, single submitter clinical testing

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