ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.*6G>A

dbSNP: rs375366321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558389 SCV001780326 likely benign not provided 2023-04-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004551905 SCV004723084 likely benign SUFU-related disorder 2023-11-27 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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