ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1157+6C>T

gnomAD frequency: 0.00001  dbSNP: rs535323089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604414 SCV000720789 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001041817 SCV001205457 likely benign Gorlin syndrome; Medulloblastoma 2023-12-04 criteria provided, single submitter clinical testing

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