ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) (rs45491898)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118616 SCV000153024 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.
Illumina Clinical Services Laboratory,Illumina RCV000384322 SCV000455345 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556892 SCV000658957 benign Treacher Collins syndrome 1 2017-06-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118616 SCV000306814 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000118616 SCV000803587 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >3% in Exome Aggregation Consortium (European non-Finnish population).

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