ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1225+2dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465045 SCV004213986 likely pathogenic Bardet-Biedl syndrome 2 2023-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021984 SCV005644027 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-06-19 criteria provided, single submitter clinical testing

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