ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1728+16T>A

gnomAD frequency: 0.00017  dbSNP: rs758961945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245620 SCV000303330 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002055032 SCV002334225 benign Gorlin syndrome 2024-01-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002055032 SCV004017167 likely benign Gorlin syndrome 2023-07-07 criteria provided, single submitter clinical testing

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