ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1470C>T (p.Ile490=)

gnomAD frequency: 0.00002  dbSNP: rs771120248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001362 SCV001158560 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Invitae RCV001502814 SCV001707651 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277099 SCV001463903 likely benign Hypophosphatasia 2020-05-01 no assertion criteria provided clinical testing

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