ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2983G>T (p.Val995Phe) (rs142967124)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203008 SCV000258073 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV000761853 SCV000289954 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000203008 SCV000345523 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000761853 SCV000614948 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761853 SCV000892058 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing

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