ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)

gnomAD frequency: 0.21165  dbSNP: rs15251
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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 RCV000118615 SCV000306813 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521229 SCV001730525 benign Treacher Collins syndrome 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001640100 SCV001860663 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118615 SCV000153023 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118615 SCV001741495 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118615 SCV001956492 benign not specified no assertion criteria provided clinical testing

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