ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.372T>C (p.Tyr124=)

gnomAD frequency: 0.00012  dbSNP: rs141903251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073289 SCV002395653 likely benign Bardet-Biedl syndrome 2024-10-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700636 SCV001921601 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727956 SCV001970616 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003956329 SCV004776667 likely benign BBS4-related disorder 2019-09-17 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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