ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1140G>A (p.Val380=)

gnomAD frequency: 0.00036  dbSNP: rs141511580
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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 RCV001087745 SCV000563609 likely benign Bardet-Biedl syndrome 2024-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593840 SCV000705410 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915326 SCV004737135 likely benign BBS4-related disorder 2019-05-16 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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