ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.568dup (p.Ser190fs)

dbSNP: rs1553941279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672894 SCV000798046 likely pathogenic Bardet-Biedl syndrome 12 2018-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672894 SCV004211659 likely pathogenic Bardet-Biedl syndrome 12 2023-10-22 criteria provided, single submitter clinical testing

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