ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV003448653 SCV004175724 likely pathogenic Hypophosphatasia 2023-12-05 criteria provided, single submitter clinical testing Additional compounds het c.[1258G>A];[299C>T] and homozygous c.[1258G>A];[1258G>A], Compound het c.[1258G>A];[571G>A] Variant c.299C>T and c.571G>A are not reported in ClinVar.
Baylor Genetics RCV003466079 SCV004193631 likely pathogenic Adult hypophosphatasia 2023-10-26 criteria provided, single submitter clinical testing

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