ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) (rs151181674)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116443 SCV000228728 benign not specified 2015-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716163 SCV000847000 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing
Invitae RCV001087148 SCV001015882 benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675887 SCV001143146 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116443 SCV000150368 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675887 SCV000801613 likely benign not provided 2017-08-30 no assertion criteria provided clinical testing

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