ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.554-16T>A

gnomAD frequency: 0.00015  dbSNP: rs760845015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001614675 SCV001840712 benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771807 SCV002940483 benign FG syndrome 2022-09-02 criteria provided, single submitter clinical testing

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