ClinVar Miner

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

gnomAD frequency: 0.00131  dbSNP: rs147802438
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233425 SCV000285544 benign Werner syndrome 2024-01-31 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].
Revvity Omics, Revvity RCV000233425 SCV003823787 uncertain significance Werner syndrome 2023-05-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315783 SCV004016241 likely benign Wiskott-Aldrich syndrome 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721269 SCV005330864 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing WRN: BP4, BS2
ITMI RCV000122281 SCV000086506 not provided not specified 2013-09-19 no assertion provided reference population

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