ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro)

dbSNP: rs2071240
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118607 SCV000306802 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514709 SCV001722619 benign Treacher Collins syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001657752 SCV001872270 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118607 SCV000153015 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001657752 SCV001929656 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118607 SCV001951690 benign not specified no assertion criteria provided clinical testing

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