ClinVar Miner

Submissions for variant NM_002133.3(HMOX1):c.378C>T (p.Pro126=)

gnomAD frequency: 0.00399  dbSNP: rs73885946
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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 RCV002079375 SCV002425920 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494344 SCV002801066 likely benign Heme oxygenase 1 deficiency; COPD, severe early onset 2021-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754858 SCV005352339 likely benign HMOX1-related disorder 2024-08-14 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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