ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)

dbSNP: rs2117947811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001733427 SCV001983773 likely pathogenic Gorlin syndrome 2021-10-26 criteria provided, single submitter clinical testing

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