ClinVar Miner

Submissions for variant NM_199292.3(TH):c.1070+8C>G (rs12419447)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250457 SCV000317141 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000250457 SCV000341667 benign not specified 2016-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278788 SCV000369915 benign Segawa syndrome, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710269 SCV000677518 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000278788 SCV000745017 benign Segawa syndrome, autosomal recessive 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000278788 SCV000745783 benign Segawa syndrome, autosomal recessive 2015-02-07 no assertion criteria provided clinical testing

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