ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) (rs137852856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002776 SCV000022934 pathogenic Bardet-Biedl syndrome 9 2005-12-01 no assertion criteria provided literature only
Laboratory of Medical Genetics, INSERM RCV000735941 SCV000839582 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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