ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)

dbSNP: rs1057519289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002502449 SCV002806376 likely pathogenic Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-07-08 criteria provided, single submitter clinical testing
OMIM RCV000415542 SCV000493972 pathogenic Autosomal recessive spastic paraplegia type 78 2017-02-01 no assertion criteria provided literature only

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