ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2252-8A>T

gnomAD frequency: 0.00006  dbSNP: rs759020707
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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 RCV001087912 SCV001017097 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874865 SCV001147167 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ATP13A2: BP4

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