ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)

dbSNP: rs2132887747
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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 RCV002278006 SCV002565770 likely pathogenic Ehlers-Danlos syndrome 2019-11-01 criteria provided, single submitter clinical testing

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