ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.206C>T (p.Ala69Val)

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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 RCV004586512 SCV005073972 uncertain significance Hypophosphatasia 2024-06-11 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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