ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala)

gnomAD frequency: 0.00310  dbSNP: rs183419459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386829 SCV000455909 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000879969 SCV001023026 benign not provided 2023-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902365 SCV004728691 likely benign NIPAL4-related disorder 2020-02-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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