ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) (rs145018752)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715971 SCV000846804 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other strong data supporting benign classification
Athena Diagnostics Inc RCV000441910 SCV000842557 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000441910 SCV000511651 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000117389 SCV000151573 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.
Invitae RCV000557282 SCV000653806 benign Mental retardation, X-linked 98 2017-11-19 criteria provided, single submitter clinical testing

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