ClinVar Miner

Submissions for variant NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148055 SCV003835643 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 28 2022-10-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148054 SCV003835732 likely pathogenic Hurthle cell carcinoma of thyroid 2022-10-05 criteria provided, single submitter clinical testing

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