ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)

gnomAD frequency: 0.00096  dbSNP: rs150395094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152841 SCV000202237 uncertain significance not provided 2014-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085932 SCV001001086 benign Bardet-Biedl syndrome 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917487 SCV004731790 likely benign BBS4-related disorder 2020-01-23 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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