ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) (rs142593414)

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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 RCV000487758 SCV000575415 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199434 SCV001162417 pathogenic Bardet-Biedl syndrome 2020-01-09 criteria provided, single submitter research

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