ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)

dbSNP: rs1964676925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264338 SCV001442442 likely pathogenic Bardet-Biedl syndrome 2 2020-03-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001264338 SCV004214026 likely pathogenic Bardet-Biedl syndrome 2 2023-06-14 criteria provided, single submitter clinical testing

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