ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) (rs137955309)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088641 SCV000640189 likely benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710709 SCV000840998 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720358 SCV000851235 likely benign History of neurodevelopmental disorder 2018-02-01 criteria provided, single submitter clinical testing

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