ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)

dbSNP: rs151344630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058869 SCV000090389 pathogenic Bardet-Biedl syndrome 2023-01-02 criteria provided, single submitter research

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