ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)

gnomAD frequency: 0.00002  dbSNP: rs150849772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916215 SCV001061448 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551817 SCV004786863 likely benign ALPL-related disorder 2022-07-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001832071 SCV002094047 benign Hypophosphatasia 2019-10-22 no assertion criteria provided clinical testing

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