ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3522T>C (p.His1174=)

gnomAD frequency: 0.00243  dbSNP: rs146651797
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198707 SCV000252744 benign Renal cell carcinoma 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001719886 SCV000530562 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics RCV000563116 SCV000664634 likely benign Hereditary cancer-predisposing syndrome 2015-05-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV000563116 SCV002532152 benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315760 SCV004015849 benign Papillary renal cell carcinoma type 1 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000121341 SCV000085516 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000121341 SCV003839710 likely benign not specified 2022-05-12 no assertion criteria provided clinical testing

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