ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=)

gnomAD frequency: 0.17396  dbSNP: rs2071238
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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 RCV000118603 SCV000306798 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521224 SCV001730520 benign Treacher Collins syndrome 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001711207 SCV001944046 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118603 SCV000153011 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 RCV000118603 SCV001932553 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118603 SCV001953969 benign not specified no assertion criteria provided clinical testing

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