ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.141A>G (p.Ile47Met)

gnomAD frequency: 0.00002  dbSNP: rs776641719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332152 SCV001524371 uncertain significance Mast syndrome 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002274189 SCV002559573 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV002274189 SCV004227430 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing PM2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001332152 SCV004805526 pathogenic Mast syndrome 2024-03-25 criteria provided, single submitter research

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