ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.2187C>T (p.Asn729=)

gnomAD frequency: 0.00469  dbSNP: rs113203253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000957639 SCV001104452 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502984 SCV002805847 likely benign Myeloperoxidase deficiency; Alzheimer disease type 1 2021-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957639 SCV005252788 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004726743 SCV005335485 benign MPO-related disorder 2024-03-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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