ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.4674G>A (p.Thr1558=)

gnomAD frequency: 0.00828  dbSNP: rs45578537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949578 SCV001095838 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949578 SCV004184399 benign not provided 2024-07-01 criteria provided, single submitter clinical testing NIN: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000949578 SCV005295371 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117806 SCV000152067 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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