ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=)

dbSNP: rs770238710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237164 SCV001649792 likely benign Ehlers-Danlos syndrome, classic type, 1 2019-07-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276737 SCV002565758 uncertain significance Ehlers-Danlos syndrome 2021-12-13 criteria provided, single submitter clinical testing

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