ClinVar Miner

Submissions for variant NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) (rs515726135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000114319 SCV000147881 pathogenic Bardet-Biedl syndrome 1 2014-02-20 no assertion criteria provided literature only
OMIM RCV000133552 SCV000188627 pathogenic Bardet-Biedl syndrome 17 2014-05-01 no assertion criteria provided literature only

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