ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) (rs1399961)

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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 RCV000081553 SCV000113484 benign not specified 2012-07-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081553 SCV000311937 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369580 SCV000376918 benign Cutis laxa with osteodystrophy 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.
GeneDx RCV000081553 SCV000517510 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 RCV001516702 SCV001725020 benign ALG9 congenital disorder of glycosylation 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000369580 SCV001775056 benign Cutis laxa with osteodystrophy 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001553945 SCV001775057 benign Wrinkly skin syndrome 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081553 SCV001739766 benign not specified no assertion criteria provided clinical testing

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