ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=)

gnomAD frequency: 0.00001  dbSNP: rs952300030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820432 SCV002071302 likely benign not specified 2019-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074334 SCV002390293 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-07-09 criteria provided, single submitter clinical testing

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