Submissions for variant NM_000486.6(AQP2):c.342G>A (p.Gly114=)

gnomAD frequency: 0.01305  dbSNP: rs35400945

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253956	SCV000304448	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262274	SCV000379590	benign	Diabetes insipidus, nephrogenic, autosomal	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000962255	SCV001109330	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000262274	SCV002539405	benign	Diabetes insipidus, nephrogenic, autosomal	2021-12-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000962255	SCV002575693	likely benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV000962255	SCV005235846	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001274490	SCV001458717	benign	Nephrogenic diabetes insipidus	2020-09-16	no assertion criteria provided	clinical testing