ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.27_32delinsCCTGC (p.Gln12fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037634 SCV005673523 likely pathogenic Mitochondrial complex I deficiency, nuclear type 1 2024-05-24 criteria provided, single submitter clinical testing

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