ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3084-10G>A

dbSNP: rs368908107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727909 SCV000855416 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060965 SCV002400305 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2022-08-23 criteria provided, single submitter clinical testing

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