ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=)

dbSNP: rs775625778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768938 SCV001993727 uncertain significance not provided 2020-11-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002543997 SCV003446317 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-07-19 criteria provided, single submitter clinical testing

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