ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2067C>T (p.Ser689=)

gnomAD frequency: 0.00010  dbSNP: rs191757062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081277 SCV000285532 likely benign Werner syndrome 2024-01-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000596682 SCV000705669 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing

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