ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.856del (p.Ser286fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576176 SCV005052039 likely pathogenic Bardet-Biedl syndrome 2 2024-02-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005015187 SCV005644048 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-04-14 criteria provided, single submitter clinical testing

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