ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2397C>T (p.Ala799=)

gnomAD frequency: 0.00001  dbSNP: rs772920644
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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 RCV001434946 SCV001637764 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-05-22 criteria provided, single submitter clinical testing

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