ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) (rs1553415164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669962 SCV000794765 likely pathogenic Infantile hypophosphatasia 2017-10-16 criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Wuerzburg RCV000515710 SCV000611833 likely pathogenic Low alkaline phosphatase no assertion criteria provided clinical testing

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