ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)

gnomAD frequency: 0.00030  dbSNP: rs199960807
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726308 SCV000343622 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000269889 SCV000595363 uncertain significance not specified 2016-04-15 criteria provided, single submitter clinical testing
Invitae RCV000726308 SCV000773189 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000726308 SCV001896521 benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461058 SCV002755861 benign Inborn genetic diseases 2017-07-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV000726308 SCV004010948 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NEXMIF: BP4, BS2

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