ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)

dbSNP: rs199474722
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Total submissions: 2
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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 RCV003221799 SCV003915879 likely pathogenic Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058867 SCV000090387 pathogenic Bardet-Biedl syndrome 10 no assertion criteria provided not provided Converted during submission to Pathogenic.

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