ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)

dbSNP: rs1192804794
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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. RCV001264008 SCV001442107 likely pathogenic Bardet-Biedl syndrome 2 2019-04-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV001264008 SCV004213998 likely pathogenic Bardet-Biedl syndrome 2 2023-10-03 criteria provided, single submitter clinical testing

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