ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13717A>C (p.Asn4573His) (rs34382952)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254363 SCV000225021 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254363 SCV000312148 likely benign not specified criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515968 SCV000574498 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488235 SCV000574947 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000488235 SCV000614938 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Invitae RCV000542522 SCV000629455 likely benign Spastic paraplegia 2018-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000674768 SCV000800161 benign Spastic ataxia Charlevoix-Saguenay type 2018-05-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000488235 SCV000802121 uncertain significance not provided 2016-03-15 no assertion criteria provided clinical testing

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