ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1695G>A (p.Lys565=)

dbSNP: rs1555050427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673043 SCV000798209 uncertain significance Bardet-Biedl syndrome 1 2018-03-01 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003222093 SCV003915900 likely pathogenic Bardet-Biedl syndrome 2023-06-02 criteria provided, single submitter research

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