ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004515800 SCV005016598 likely pathogenic Autosomal recessive nonsyndromic hearing loss 77 2024-03-14 criteria provided, single submitter clinical testing

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