ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) (rs7135542)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081547 SCV000113478 benign not specified 2012-07-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081547 SCV000311934 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374481 SCV000376930 benign Cutis laxa with osteodystrophy 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000081547 SCV000517511 benign not specified 2016-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001516703 SCV001725021 benign ALG9 congenital disorder of glycosylation 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000374481 SCV001775319 benign Cutis laxa with osteodystrophy 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001554140 SCV001775320 benign Wrinkly skin syndrome 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081547 SCV001743292 benign not specified no assertion criteria provided clinical testing

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