ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser)

gnomAD frequency: 0.00993  dbSNP: rs73270846
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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 RCV000118609 SCV000306803 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000118609 SCV000856356 benign not specified 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878912 SCV001021903 benign Treacher Collins syndrome 1 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001689663 SCV001911795 benign not provided 2020-02-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28065470)
CeGaT Center for Human Genetics Tuebingen RCV001689663 SCV004042241 benign not provided 2023-09-01 criteria provided, single submitter clinical testing TCOF1: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago RCV000118609 SCV000153017 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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