ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.263del (p.Gly88fs)

dbSNP: rs869025206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000207681 SCV004214042 pathogenic Bardet-Biedl syndrome 2 2023-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016557 SCV005644086 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-02-21 criteria provided, single submitter clinical testing
Department Of Medical Genetics, Faculty Of Medicine, Ege University RCV000207681 SCV000255607 pathogenic Bardet-Biedl syndrome 2 2015-10-05 no assertion criteria provided research

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