ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.315C>A (p.Thr105=)

gnomAD frequency: 0.93266  dbSNP: rs4128539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508277 SCV000603194 benign Ehlers-Danlos syndrome, classic type, 2 2023-11-30 criteria provided, single submitter clinical testing
Invitae RCV001509589 SCV001716404 benign Ehlers-Danlos syndrome, classic type, 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000508277 SCV001876651 benign Ehlers-Danlos syndrome, classic type, 2 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528821 SCV001741221 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528821 SCV001809578 benign not specified no assertion criteria provided clinical testing

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