ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1099dup (p.Leu367fs)

dbSNP: rs797044632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173906 SCV000225081 pathogenic not provided 2015-01-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567377 SCV005054709 likely pathogenic Bardet-Biedl syndrome 2 2024-03-01 criteria provided, single submitter clinical testing

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