ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) (rs1460517643)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625185 SCV000744063 pathogenic Bardet-Biedl syndrome 1 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625185 SCV000745513 likely pathogenic Bardet-Biedl syndrome 1 2017-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763309 SCV000893985 likely pathogenic Bardet-Biedl syndrome 10 2018-10-31 criteria provided, single submitter clinical testing

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