ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=)

gnomAD frequency: 0.99656  dbSNP: rs11136253
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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 RCV001511987 SCV001719316 benign 5-Oxoprolinase deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001685379 SCV001899727 benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511987 SCV002029306 benign 5-Oxoprolinase deficiency 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685379 SCV005269716 benign not provided criteria provided, single submitter not provided

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