ClinVar Miner

Submissions for variant NM_182476.3(COQ6):c.1A>G (p.Met1Val)

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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 RCV005005686 SCV005633503 uncertain significance Familial steroid-resistant nephrotic syndrome with sensorineural deafness 2024-02-07 criteria provided, single submitter clinical testing

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