ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.318-7C>G

gnomAD frequency: 0.00001  dbSNP: rs751778806
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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 RCV000925462 SCV001070999 likely benign Gorlin syndrome; Medulloblastoma 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551865 SCV004756059 likely benign SUFU-related disorder 2022-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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