ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) (rs377440297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000422994 SCV000341565 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422994 SCV000511099 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001078551 SCV000652861 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2019-12-31 criteria provided, single submitter clinical testing

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