ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.684-17C>G

gnomAD frequency: 0.00002  dbSNP: rs1454924481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159635 SCV002331371 likely benign Gorlin syndrome; Medulloblastoma 2024-06-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005232791 SCV005872552 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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