ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) (rs587779553)

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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 RCV000087640 SCV000120531 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000087640 SCV000840201 not provided Ehlers-Danlos syndrome, type 4 no assertion provided phenotyping only 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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