ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.365del (p.Ala122fs)

dbSNP: rs1964569500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001175188 SCV004806444 likely pathogenic Bardet-Biedl syndrome 2 2024-03-25 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001175188 SCV001338712 likely pathogenic Bardet-Biedl syndrome 2 no assertion criteria provided research

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