ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) (rs57474185)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210687 SCV000263019 likely benign Inborn genetic diseases 2013-05-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 Inc RCV000056852 SCV000842191 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000056852 SCV001101417 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000263951 SCV001140671 likely benign Alexander Disease 2019-05-28 criteria provided, single submitter clinical testing
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

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