ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3804+32T>C

gnomAD frequency: 0.00236  dbSNP: rs199982439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251116 SCV000303354 benign not specified criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316343 SCV004017139 benign Gorlin syndrome 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712191 SCV005272112 benign not provided criteria provided, single submitter not provided
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000251116 SCV005873455 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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