ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.4937G>A (p.Arg1646His)

gnomAD frequency: 0.00096  dbSNP: rs149669464
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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 RCV000894372 SCV001038352 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117809 SCV000152070 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000894372 SCV001797774 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894372 SCV001964023 likely benign not provided no assertion criteria provided clinical testing

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