ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys)

gnomAD frequency: 0.00002  dbSNP: rs552540556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560168 SCV000652680 likely benign Hyperphosphatasia with intellectual disability syndrome 2 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900226 SCV004711017 likely benign PIGO-related disorder 2022-03-07 no assertion criteria provided 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).

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