ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala)

gnomAD frequency: 0.18279  dbSNP: rs7713638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118610 SCV000306805 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521227 SCV001730523 benign Treacher Collins syndrome 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001650970 SCV001867366 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118610 SCV000153018 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.

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