ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs)

dbSNP: rs1825528981
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269695 SCV001449884 pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing

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