ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) (rs1555048487)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513191 SCV000608596 likely pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000674877 SCV000800284 uncertain significance Bardet-Biedl syndrome 1 2018-05-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199648 SCV001162412 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research

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