ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)

dbSNP: rs1281276965
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706833 SCV001934356 uncertain significance Multiple mitochondrial dysfunctions syndrome 1 2021-07-28 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed). This variant was identified as likely compound heterozygous with NM_001002755.3:c.565G>A.

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