ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1238T>C (p.Ile413Thr)

dbSNP: rs2148192434
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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 RCV002247165 SCV002515968 uncertain significance Hypophosphatasia 2021-12-25 no assertion criteria provided clinical testing

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