ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.516T>C (p.Ser172=)

gnomAD frequency: 0.00001  dbSNP: rs758562179
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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 RCV000869865 SCV001011325 likely benign Bardet-Biedl syndrome 2025-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816987 SCV002066570 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501299 SCV002810598 likely benign Bardet-Biedl syndrome 5 2021-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908261 SCV004720237 likely benign BBS5-related disorder 2020-11-02 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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