ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)

dbSNP: rs752690768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861817 SCV001002221 benign Bardet-Biedl syndrome 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501202 SCV002798429 likely benign Bardet-Biedl syndrome 4 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948062 SCV004760875 likely benign BBS4-related condition 2023-06-23 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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