ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs)

dbSNP: rs2118045103
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001795879 SCV002037204 likely pathogenic Gorlin syndrome 2020-10-20 criteria provided, single submitter clinical testing

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