ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1216-20G>A

gnomAD frequency: 0.00001  dbSNP: rs747471269
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122371 SCV002392606 likely benign Gorlin syndrome 2024-10-08 criteria provided, single submitter clinical testing

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