ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.1217T>C (p.Leu406Pro)

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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 RCV004764463 SCV005373902 likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2024-09-22 criteria provided, single submitter clinical testing

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