ClinVar Miner

Submissions for variant NM_001135244.1(TCOF1):c.-59G>A

gnomAD frequency: 0.00146  dbSNP: rs151344563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust RCV000190962 SCV000245849 likely benign Treacher Collins syndrome 1 no assertion criteria provided not provided

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