ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.940del (p.Ile314fs)

dbSNP: rs587777824
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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 RCV000004830 SCV004214030 pathogenic Bardet-Biedl syndrome 2 2023-06-05 criteria provided, single submitter clinical testing
OMIM RCV000004830 SCV000025006 pathogenic Bardet-Biedl syndrome 2 2001-04-01 no assertion criteria provided literature only

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