ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1290dup (p.His431fs)

dbSNP: rs777420525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461063 SCV004214064 likely pathogenic Bardet-Biedl syndrome 2 2022-03-13 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787789 SCV000926799 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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