ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3235+20C>T

gnomAD frequency: 0.00044  dbSNP: rs376475762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162832 SCV002413784 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002162832 SCV002807921 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-09-27 criteria provided, single submitter clinical testing

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