ClinVar Miner

Submissions for variant NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=)

gnomAD frequency: 0.00003  dbSNP: rs782559583
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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 RCV000925171 SCV001070704 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505371 SCV002804444 likely benign 5-Oxoprolinase deficiency 2022-01-19 criteria provided, single submitter clinical testing

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