ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.421-16G>T

gnomAD frequency: 0.00016  dbSNP: rs780682849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002179586 SCV002334272 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002179586 SCV002802361 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-17 criteria provided, single submitter clinical testing

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