ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.5075G>A (p.Cys1692Tyr)

gnomAD frequency: 0.01319  dbSNP: rs75544578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957216 SCV001104014 benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957216 SCV005295294 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117810 SCV000152071 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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