ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1195+7G>A

dbSNP: rs1407939803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539944 SCV000640182 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2017-04-05 criteria provided, single submitter clinical testing

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