ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2610-9T>C

gnomAD frequency: 0.00026  dbSNP: rs376189607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641070 SCV000762688 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-12-26 criteria provided, single submitter clinical testing

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