ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.640-1981_640-1964del (rs528897827)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514686 SCV000610231 likely benign not provided 2017-05-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000498859 SCV000705029 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000514686 SCV000589611 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing The c.827_844del18 variant in the TCOF1 gene has previously been reported in at least one individual with clinical features of Treacher Collins syndrome (Bowman et al., 2012). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.827_844del18 variant is an in-frame deletion that results in the loss of six amino acids, denoted p.Gly276_Glu281del. One of the residues removed is conserved across species. Based on currently available evidence, it is unclear whether this variant is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000534441 SCV000658961 likely benign Treacher Collins syndrome 1 2017-01-25 criteria provided, single submitter clinical testing

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