ClinVar Miner

Submissions for variant NM_002024.6(FMR1):c.414G>A (p.Arg138=)

gnomAD frequency: 0.10515  dbSNP: rs25707
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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) RCV000079966 SCV000111857 benign not specified 2018-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311599 SCV000846367 benign Inborn genetic diseases 2014-12-13 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.
GeneDx RCV001668194 SCV001882158 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498405 SCV002805922 benign Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1 2021-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079966 SCV000151234 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001276519 SCV001462899 benign Fragile X syndrome 2020-09-16 no assertion criteria provided clinical testing

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