ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.6006_6009del (p.Gln2003fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004764553 SCV005374071 likely pathogenic Microphthalmia, isolated, with coloboma 9 2024-09-22 criteria provided, single submitter clinical testing

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