ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)

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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 RCV003988950 SCV004805355 likely pathogenic Majeed syndrome criteria provided, single submitter research

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