ClinVar Miner

Submissions for variant NM_015080.4(NRXN2):c.2745C>T (p.Ile915=)

gnomAD frequency: 0.49435  dbSNP: rs526338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668254 SCV001882800 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668254 SCV005319034 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117850 SCV000152121 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.

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