ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.67+20T>C

gnomAD frequency: 0.00005  dbSNP: rs562137055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002212858 SCV002368087 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002212858 SCV002813033 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-29 criteria provided, single submitter clinical testing

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