ClinVar Miner

Submissions for variant NM_199292.3(TH):c.16G>A (p.Ala6Thr) (rs74555599)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000488317 SCV000844486 benign not provided 2018-02-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488317 SCV000574870 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000609157 SCV000745022 benign Segawa syndrome, autosomal recessive 2016-02-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609157 SCV000733021 likely benign Segawa syndrome, autosomal recessive no assertion criteria provided clinical testing
Invitae RCV000232028 SCV000291895 benign Dystonia 2017-12-04 criteria provided, single submitter clinical testing

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