ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2950T>A (p.Leu984Ile)

gnomAD frequency: 0.00134  dbSNP: rs146443310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000122282 SCV000228121 benign not specified 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000231217 SCV000285546 benign Werner syndrome 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000231217 SCV002514985 benign Werner syndrome 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315784 SCV004016253 benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000122282 SCV000086507 not provided not specified 2013-09-19 no assertion provided reference population

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