ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Pediatric Genetics Laboratory, Hacettepe University RCV002509130 SCV002540756 likely pathogenic Gorlin syndrome 2022-07-07 no assertion criteria provided clinical testing This variant was neither found in ExAC nor 1000G. This change was classified as “ likely pathogenic” according to the ACMG guidelines and predicted to be disease causing by in silico analysis such as MutationTaster.

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