ClinVar Miner

Submissions for variant NM_005333.5(HCCS):c.2T>C (p.Met1Thr)

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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 RCV003990036 SCV004806255 likely pathogenic Linear skin defects with multiple congenital anomalies 1 2024-03-25 criteria provided, single submitter clinical testing

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