ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.882-1G>A

gnomAD frequency: 0.00010  dbSNP: rs767682048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249982 SCV002519710 pathogenic Combined oxidative phosphorylation deficiency 44 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002249982 SCV002776843 likely pathogenic Combined oxidative phosphorylation deficiency 44 2021-08-23 criteria provided, single submitter clinical testing

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