ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.951+1G>A

dbSNP: rs587779652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory, University of Washington RCV000087629 SCV000120520 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000844985 SCV000986812 not provided COL3A1-related disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 03/07/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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