ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.305-52A>G

gnomAD frequency: 0.01012  dbSNP: rs41287124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589058 SCV001826811 likely benign not provided 2019-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589058 SCV005221278 likely benign not provided criteria provided, single submitter not provided
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190978 SCV000245865 benign Treacher Collins syndrome 1 no assertion criteria provided not provided

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