ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)

dbSNP: rs1951757988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199432 SCV001162414 pathogenic Bardet-Biedl syndrome 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001093322 SCV001250246 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing

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