ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3235+17G>A

gnomAD frequency: 0.02453  dbSNP: rs56146840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245328 SCV000313958 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001522770 SCV001732372 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675889 SCV000801615 likely benign not provided 2017-05-01 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675889 SCV001807123 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675889 SCV001972983 likely benign not provided no assertion criteria provided clinical testing

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