ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.1527G>A (p.Lys509=)

gnomAD frequency: 0.00001  dbSNP: rs773340468
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002254599 SCV001230805 likely benign Sulfite oxidase deficiency 2023-08-31 criteria provided, single submitter clinical testing

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