ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.949+12G>A

gnomAD frequency: 0.00156  dbSNP: rs142819774
Minimum review status: Collection method:
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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 RCV002095659 SCV002383039 benign 5-Oxoprolinase deficiency 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002095659 SCV002803609 likely benign 5-Oxoprolinase deficiency 2021-07-26 criteria provided, single submitter clinical testing

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