ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)

gnomAD frequency: 0.00010  dbSNP: rs538497077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087882 SCV000762691 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001087882 SCV002800224 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-10-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675906 SCV000801633 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing

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