ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3405-29A>T (rs3213784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509331 SCV000607292 not provided not provided 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.
PreventionGenetics RCV000243690 SCV000308499 benign not specified criteria provided, single submitter clinical testing

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