ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1847G>C (p.Ser616Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004764864 SCV005374615 likely pathogenic Basal cell nevus syndrome 1 2024-05-20 criteria provided, single submitter clinical testing Patient with odontogenic keratocysts and basal cell carcinoma. In summary, the p.Ser616Thr variant meets our criteria to be classified as likely pathogenic.

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