ClinVar Miner

Submissions for variant NM_005786.6(TSHZ1):c.368C>T (p.Thr123Ile) (rs112669427)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281581 SCV000410122 likely benign Aural atresia, congenital 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434334 SCV000511664 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.

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