ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.720T>G (p.Asn240Lys) (rs148229804)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000122305 SCV000232079 likely benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000533817 SCV000629741 benign Werner syndrome 2020-12-02 criteria provided, single submitter clinical testing
ITMI RCV000122305 SCV000086534 not provided not specified 2013-09-19 no assertion provided reference population

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