ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514686 SCV000589611 benign not provided 2019-05-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22317976)
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
Invitae RCV001089101 SCV000658961 likely benign Treacher Collins syndrome 1 2019-12-31 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
Athena Diagnostics Inc RCV000514686 SCV001146133 benign not provided 2019-07-02 criteria provided, single submitter clinical testing

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