ClinVar Miner

Submissions for variant NM_000054.6(AVPR2):c.26-6T>G (rs56689668)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242524 SCV000301729 benign not specified 2016-02-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325895 SCV000481999 benign Nephrogenic diabetes insipidus, X-linked 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.
Athena Diagnostics Inc RCV000576631 SCV000677136 benign Nephrogenic diabetes insipidus, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 2017-06-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000242524 SCV000711758 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.26-6T) is the minor allele. This a llele (T) has been identified in 0.78% (22/2806) of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs56 689668) and thus meets criteria to be classified as likely benign.

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