ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=)

dbSNP: rs369518896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277998 SCV002565722 uncertain significance Ehlers-Danlos syndrome 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594180 SCV004291713 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-09-26 criteria provided, single submitter clinical testing

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