ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.697G>A (p.Val233Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University RCV003984981 SCV004801109 likely pathogenic Auditory neuropathy spectrum disorder 2021-02-18 no assertion criteria provided clinical testing

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