ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV004547439 SCV005043071 likely pathogenic Hypophosphatasia 2024-04-09 criteria provided, single submitter clinical testing The variant is absent from GnomAD. The ACMG criteria applied can be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/

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