ClinVar Miner

Submissions for variant NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro)

dbSNP: rs1599670818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences RCV000852381 SCV001244668 uncertain significance Mitochondrial complex II deficiency, nuclear type 1 2019-07-05 criteria provided, single submitter research
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV000852381 SCV000987222 uncertain significance Mitochondrial complex II deficiency, nuclear type 1 no assertion criteria provided clinical testing

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