ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1776C>T (p.Ala592=)

gnomAD frequency: 0.00001  dbSNP: rs1489468740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436681 SCV001639525 likely benign Bardet-Biedl syndrome 2024-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501541 SCV002798070 likely benign Bardet-Biedl syndrome 1 2022-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946143 SCV004760089 likely benign BBS1-related disorder 2024-01-04 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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