ClinVar Miner

Submissions for variant NM_020921.4(NIN):c.5996G>A (p.Arg1999His)

gnomAD frequency: 0.00097  dbSNP: rs141405524
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503830 SCV000596009 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527270 SCV003271256 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002527270 SCV004184398 benign not provided 2023-11-01 criteria provided, single submitter clinical testing NIN: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003960174 SCV004766734 benign NIN-related disorder 2020-06-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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