ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) (rs201883464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710707 SCV000840996 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718856 SCV000849720 likely benign History of neurodevelopmental disorder 2018-06-13 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Invitae RCV001083694 SCV001016674 likely benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing

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