ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4645-4C>G

dbSNP: rs747264682
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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 RCV002278004 SCV002565760 uncertain significance Ehlers-Danlos syndrome 2022-05-10 criteria provided, single submitter clinical testing

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