ClinVar Miner

Submissions for variant NM_001697.3(ATP5PO):c.87+3A>G

dbSNP: rs1987287870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV001290417 SCV001427056 likely pathogenic Leigh syndrome 2020-08-09 criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV001257515 SCV001430892 pathogenic ATP5PO-related disorder 2020-06-29 criteria provided, single submitter clinical testing
OMIM RCV003227945 SCV003922387 pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 2023-05-04 no assertion criteria provided literature only

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