ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.455G>A (p.Arg152His) (rs149344982)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178779 SCV000230933 benign not specified 2015-03-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224237 SCV000280927 benign not provided 2014-12-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178779 SCV000304435 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000207050 SCV000354298 benign Hypophosphatasia 2018-03-06 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178779 SCV000538279 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, gene and variant associated with hypophosphatasia
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283474 SCV000602471 benign none provided 2020-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000178779 SCV000612317 benign not specified 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000224237 SCV001733508 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
GeneReviews RCV000207050 SCV000262609 benign Hypophosphatasia 2016-02-04 no assertion criteria provided literature only
Natera, Inc. RCV000207050 SCV001459876 benign Hypophosphatasia 2020-09-16 no assertion criteria provided clinical testing

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