ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.511C>G (p.His171Asp)

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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 RCV003448556 SCV004175880 likely pathogenic Hypophosphatasia 2023-08-22 criteria provided, single submitter clinical testing Absent in GnomAD. Further information about the ACMG criteria applied can be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/

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