ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.205_212del (p.Ala69fs)

dbSNP: rs1553411896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599008 SCV000710337 likely pathogenic not provided 2020-11-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001834914 SCV002094049 likely pathogenic Hypophosphatasia 2021-03-09 no assertion criteria provided clinical testing

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