ClinVar Miner

Submissions for variant NM_000486.6(AQP2):c.360+3G>A

gnomAD frequency: 0.16237  dbSNP: rs3741559
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250941 SCV000304450 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000613558 SCV000379592 benign Diabetes insipidus, nephrogenic, autosomal 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000613558 SCV000743467 benign Diabetes insipidus, nephrogenic, autosomal 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521248 SCV001730557 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000613558 SCV001754907 benign Diabetes insipidus, nephrogenic, autosomal 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001521248 SCV001893218 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 20814834)
Breakthrough Genomics, Breakthrough Genomics RCV001521248 SCV005235847 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613558 SCV000733176 benign Diabetes insipidus, nephrogenic, autosomal no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250941 SCV001954669 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001828133 SCV002091100 benign Nephrogenic diabetes insipidus 2019-09-09 no assertion criteria provided clinical testing

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