ClinVar Miner

Submissions for variant NM_003184.4(TAF2):c.23C>T (p.Pro8Leu)

gnomAD frequency: 0.13424  dbSNP: rs17818842
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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 RCV001510550 SCV001717618 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001816007 SCV002062189 benign Microcephaly-thin corpus callosum-intellectual disability syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001510550 SCV005270232 benign not provided criteria provided, single submitter not provided

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