ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.4092_4094GAA[2] (p.Lys1367del) (rs574569798)

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Total submissions: 3
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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 RCV000224172 SCV000281163 benign not provided 2015-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287476 SCV000455346 likely benign Treacher Collins Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535212 SCV000658958 benign Treacher Collins syndrome 1 2017-09-05 criteria provided, single submitter clinical testing

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