ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.462G>C (p.Leu154=)

gnomAD frequency: 0.00002  dbSNP: rs767240340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638375 SCV000759877 likely benign Bardet-Biedl syndrome 2023-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892446 SCV004716349 likely benign BBS5-related condition 2021-07-13 criteria provided, single submitter 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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