ClinVar Miner

Submissions for variant NM_003184.4(TAF2):c.2112+14C>T

gnomAD frequency: 0.60770  dbSNP: rs13268676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522221 SCV001731717 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815580 SCV002062183 benign Microcephaly-thin corpus callosum-intellectual disability syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522221 SCV005270224 benign not provided criteria provided, single submitter not provided

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