ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2937T>G (p.Ile979Met) (rs147802438)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233425 SCV000285544 benign Werner syndrome 2020-12-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000233425 SCV001481256 uncertain significance Werner syndrome 2019-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000122281 SCV000086506 not provided not specified 2013-09-19 no assertion provided reference population

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