ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.1836T>C (p.Phe612=)

gnomAD frequency: 0.15837  dbSNP: rs11993554
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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 RCV001511988 SCV001719317 benign 5-Oxoprolinase deficiency 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712998 SCV005269724 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980493 SCV004794158 benign OPLAH-related disorder 2019-11-14 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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