ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)

gnomAD frequency: 0.00543  dbSNP: rs57474185
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210687 SCV000263019 benign Inborn genetic diseases 2022-02-14 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000056852 SCV000511158 likely benign not provided 2016-12-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics RCV004998183 SCV000842191 benign not specified 2023-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000056852 SCV001101417 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Mendelics RCV000263951 SCV001140671 likely benign Alexander disease 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000056852 SCV002545943 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing GFAP: BS2
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056852 SCV000087965 not provided not provided no assertion provided not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000056852 SCV000801098 likely benign not provided 2017-06-08 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000056852 SCV002034923 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000056852 SCV002036573 likely benign not provided no assertion criteria provided clinical testing

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