ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.348-9_351del (rs749798211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191064 SCV000245454 pathogenic Parkinson disease 9 2013-01-29 criteria provided, single submitter clinical testing This variant includes the the splice acceptor site of intron 4 and the first four nucleotides of exon 5. Because the splice acceptor site is deleted, it is categorized as deleterious according to ACMG guidelines (PMID:18414213). Found with another missense variant (G315R; phase undetermined) in a 54-year-old male with seizures, apraxia, progressive cognitive problems, confusion, speech difficulty, history of stroke.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598141 SCV000708759 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing

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