ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1050A>G (p.Pro350=)

gnomAD frequency: 0.00014  dbSNP: rs370953693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862560 SCV001003080 likely benign Bardet-Biedl syndrome 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495227 SCV002797494 likely benign Bardet-Biedl syndrome 10 2021-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983220 SCV004796416 likely benign BBS10-related condition 2020-08-10 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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