ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala)

gnomAD frequency: 0.20068  dbSNP: rs2236316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723680 SCV001949844 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32934817)
Genome-Nilou Lab RCV001781455 SCV002026769 benign Seckel syndrome 7 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001723680 SCV002353275 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723680 SCV005288890 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117803 SCV000152064 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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