ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr)

dbSNP: rs531886361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277997 SCV002565720 uncertain significance Ehlers-Danlos syndrome 2019-06-01 criteria provided, single submitter clinical testing

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