ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)

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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 RCV003006157 SCV003309368 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV004779399 SCV005391738 uncertain significance not provided 2024-03-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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