ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)

gnomAD frequency: 0.00004  dbSNP: rs184095519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178776 SCV000230930 uncertain significance not provided 2014-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178776 SCV001197513 likely benign not provided 2024-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835709 SCV002094054 likely benign Hypophosphatasia 2021-01-09 no assertion criteria provided clinical testing

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