ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.406-2A>G

dbSNP: rs113994191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Medical Genetics, Faculty Of Medicine, Ege University RCV000207846 SCV000255608 pathogenic Bardet-Biedl syndrome 4 2015-10-05 no assertion criteria provided research

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