ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)

dbSNP: rs1574663066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000984084 SCV001016107 pathogenic Leigh syndrome 2019-01-01 no assertion criteria provided clinical testing
OMIM RCV001090024 SCV001245432 pathogenic Combined oxidative phosphorylation deficiency 44 2020-04-30 no assertion criteria provided literature only

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