ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.735dup (p.Ala246fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003987294 SCV004801904 likely pathogenic Basal cell nevus syndrome 1 2024-02-16 criteria provided, single submitter clinical testing

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