ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.740+14G>A

gnomAD frequency: 0.00010  dbSNP: rs373462087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418363 SCV001620589 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001418363 SCV002805777 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-11-23 criteria provided, single submitter clinical testing

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