ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4191G>A (p.Glu1397=) (rs369276959)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473088 SCV000541474 likely benign Werner syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000122299 SCV000086526 not provided not specified 2013-09-19 no assertion provided reference population
GenomeConnect - Invitae Patient Insights Network RCV001535604 SCV001749616 not provided not provided no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 03-23-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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