ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)

dbSNP: rs724160018
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Gene Diagnosis, Xijing Hospital RCV000149861 SCV000196715 likely pathogenic Deafness, X-linked 5 no assertion criteria provided clinical testing

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