ClinVar Miner

Submissions for variant NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe)

gnomAD frequency: 0.00172  dbSNP: rs149772375
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504470 SCV000597389 likely benign not specified 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971766 SCV001119432 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506230 SCV002796497 likely benign Microcephaly-thin corpus callosum-intellectual disability syndrome 2022-02-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971766 SCV004010796 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing TAF2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000971766 SCV005224068 likely benign not provided criteria provided, single submitter not provided

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