ClinVar Miner

Submissions for variant NM_145167.3(PIGM):c.294C>T (p.Leu98=)

gnomAD frequency: 0.00001  dbSNP: rs750695305
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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 RCV001480913 SCV001685244 likely benign Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923133 SCV004745697 likely benign PIGM-related disorder 2019-09-26 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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