ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) (rs762918371)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000401686 SCV000344452 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763754 SCV000894640 uncertain significance Joubert syndrome 2; Meckel syndrome type 2 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291175 SCV000372626 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345935 SCV000372627 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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