ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.220+17A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084236 SCV003479784 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2025-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003084236 SCV005649705 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-06-23 criteria provided, single submitter clinical testing

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