ClinVar Miner

Submissions for variant NM_002095.6(GTF2E2):c.549+11T>G

gnomAD frequency: 0.34313  dbSNP: rs7815625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522367 SCV001731899 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522367 SCV001856175 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702910 SCV001934023 benign Trichothiodystrophy 6, nonphotosensitive 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522367 SCV005271795 benign not provided criteria provided, single submitter not provided

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