ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.2512-7C>A

gnomAD frequency: 0.00050  dbSNP: rs541135459
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891744 SCV001035576 benign 5-Oxoprolinase deficiency 2025-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712932 SCV005269719 benign not provided criteria provided, single submitter not provided

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