ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) (rs147099630)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193608 SCV000248786 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454342 SCV000537975 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000475223 SCV000562822 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193608 SCV000704701 benign not specified 2016-12-23 criteria provided, single submitter clinical testing
Mendelics RCV000709972 SCV001138917 likely benign Spastic ataxia Charlevoix-Saguenay type 2019-05-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709972 SCV000840336 not provided Spastic ataxia Charlevoix-Saguenay type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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