ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)

gnomAD frequency: 0.07856  dbSNP: rs34605986
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174249 SCV000225521 benign not specified 2014-10-24 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000174249 SCV000304434 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000207281 SCV000354319 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001523639 SCV000884999 benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Invitae RCV001523639 SCV001733387 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533672 SCV001750431 benign Infantile hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533673 SCV001750432 benign Childhood hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533674 SCV001750433 benign Adult hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001523639 SCV001889742 benign not provided 2018-08-26 criteria provided, single submitter clinical testing
GeneReviews RCV000207281 SCV000262611 not provided Hypophosphatasia no assertion provided literature only
Natera, Inc. RCV000207281 SCV001459889 benign Hypophosphatasia 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000174249 SCV001807602 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000174249 SCV001953142 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000174249 SCV001974452 benign not specified no assertion criteria provided clinical testing

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