ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.330T>C (p.Ser110=)

gnomAD frequency: 0.92311  dbSNP: rs1780316
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178778 SCV000230932 benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000178778 SCV001652979 benign not specified 2020-06-11 criteria provided, single submitter clinical testing The p.Ser110Ser variant in ALPL is classified as benign because it is the major allele at this position and is present in 94.5% (266754/282304) of total chromosomes in gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae RCV001514855 SCV001722799 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533722 SCV001750511 benign Infantile hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533723 SCV001750512 benign Childhood hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533724 SCV001750513 benign Adult hypophosphatasia 2021-07-01 criteria provided, single submitter clinical testing
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV001832026 SCV004174855 benign Hypophosphatasia 2022-03-04 criteria provided, single submitter clinical testing GnomAD frequency 94.49%. It is a Synonymous change. Further details on the ACMG criteria applied could be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000178778 SCV001741269 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000178778 SCV001807813 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000178778 SCV001965929 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001832026 SCV002094051 benign Hypophosphatasia 2019-11-16 no assertion criteria provided clinical testing

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