ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)

dbSNP: rs1553941391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665007 SCV000789060 likely pathogenic Bardet-Biedl syndrome 12 2016-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665007 SCV002782228 likely pathogenic Bardet-Biedl syndrome 12 2022-04-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665007 SCV004211690 likely pathogenic Bardet-Biedl syndrome 12 2024-02-02 criteria provided, single submitter clinical testing

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