ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)

dbSNP: rs1562917450
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
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735943 SCV000839584 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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