ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.863-7T>C

gnomAD frequency: 0.17114  dbSNP: rs74063111
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248708 SCV000304444 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387175 SCV000354305 benign Hypophosphatasia 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.
Eurofins Ntd Llc (ga) RCV000248708 SCV000702854 benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516774 SCV001725119 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533616 SCV001750335 benign Infantile hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533617 SCV001750336 benign Childhood hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533618 SCV001750337 benign Adult hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001516774 SCV001829019 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516774 SCV005286166 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000248708 SCV001807321 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248708 SCV001969954 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000387175 SCV002094078 benign Hypophosphatasia 2019-11-20 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.