ClinVar Miner

Submissions for variant NM_145167.3(PIGM):c.120C>T (p.Asp40=)

gnomAD frequency: 0.00016  dbSNP: rs375538606
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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 RCV002540044 SCV001027577 benign Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 2024-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930611 SCV004737469 likely benign PIGM-related disorder 2019-10-28 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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