ClinVar Miner

Submissions for variant NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) (rs515726134)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000114318 SCV000147880 pathogenic Bardet-Biedl syndrome 1 2014-02-20 no assertion criteria provided literature only
OMIM RCV000114434 SCV000148380 pathogenic Bardet-Biedl syndrome 18 2014-02-01 no assertion criteria provided literature only

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