ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.5628+5T>C

gnomAD frequency: 0.99236  dbSNP: rs3015485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596968 SCV001830975 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781456 SCV002026766 benign Seckel syndrome 7 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001596968 SCV002401148 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001596968 SCV005293084 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117812 SCV000152073 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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