ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.413T>G (p.Ile138Ser) (rs1386789664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761935 SCV000892162 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199435 SCV001162418 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research

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