ClinVar Miner

Submissions for variant NM_000486.6(AQP2):c.39G>A (p.Val13=)

gnomAD frequency: 0.00540  dbSNP: rs61733029
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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 RCV000254517 SCV000304451 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000950443 SCV001096752 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111886 SCV001269493 likely benign Diabetes insipidus, nephrogenic, autosomal 2018-01-12 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.
Genome-Nilou Lab RCV001111886 SCV002539403 benign Diabetes insipidus, nephrogenic, autosomal 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950443 SCV004132864 benign not provided 2023-03-01 criteria provided, single submitter clinical testing AQP2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000950443 SCV005213103 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001828134 SCV002091093 likely benign Nephrogenic diabetes insipidus 2019-11-28 no assertion criteria provided clinical testing

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