ClinVar Miner

Submissions for variant NM_182476.3(COQ6):c.1279A>G (p.Thr427Ala)

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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 RCV005007269 SCV005635701 uncertain significance Familial steroid-resistant nephrotic syndrome with sensorineural deafness 2024-05-02 criteria provided, single submitter clinical testing

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