ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly)

gnomAD frequency: 0.47353  dbSNP: rs6860507
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254023 SCV000306532 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300526 SCV000455919 benign Autosomal recessive congenital ichthyosis 6 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001675704 SCV001895193 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000300526 SCV002026777 benign Autosomal recessive congenital ichthyosis 6 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001675704 SCV002351012 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000254023 SCV001740769 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000254023 SCV001958352 benign not specified no assertion criteria provided clinical testing

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