ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3633+12A>G

gnomAD frequency: 0.00001  dbSNP: rs886055353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365051 SCV000425621 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003765929 SCV004679125 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-06-15 criteria provided, single submitter clinical testing

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