ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2940G>C (p.Gly980=)

gnomAD frequency: 0.00009  dbSNP: rs374522855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227258 SCV000285545 likely benign Werner syndrome 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579436 SCV001807223 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579436 SCV001967325 likely benign not provided no assertion criteria provided clinical testing

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