ClinVar Miner

Submissions for variant NM_015080.4(NRXN2):c.531C>T (p.Gly177=)

gnomAD frequency: 0.58725  dbSNP: rs2518907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719867 SCV001948722 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719867 SCV005319044 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117854 SCV000152125 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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