ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser)

dbSNP: rs267606830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000000016 SCV005680614 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 19 2024-06-06 criteria provided, single submitter clinical testing
OMIM RCV000000016 SCV000020159 pathogenic Mitochondrial complex 1 deficiency, nuclear type 19 2010-10-01 no assertion criteria provided literature only

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