ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.547-4T>G

gnomAD frequency: 0.00049  dbSNP: rs12080579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242044 SCV000311547 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459481 SCV001663320 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2025-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000242044 SCV002067715 uncertain significance not specified 2018-11-28 criteria provided, single submitter clinical testing

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