ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.986-14A>G

dbSNP: rs1297230026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625985 SCV000746590 uncertain significance Combined oxidative phosphorylation defect type 20 2017-05-04 criteria provided, single submitter clinical testing This variant was found in trans with another variant (p.A420T) in a 6-year-old male with severe neurodevelopmental impairment, encephalopathy, microcephaly, hypertrophic cardiomyopathy, lactic acidosis, seizure disorder (infantile spasms), abnormal MRI showing brain and brainstem atrophy.

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