ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1485+6C>T

gnomAD frequency: 0.00003  dbSNP: rs565198403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712296 SCV000533456 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003762728 SCV000754967 benign FG syndrome 2024-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821207 SCV002068773 benign not specified 2017-08-17 criteria provided, single submitter clinical testing

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