ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=)

dbSNP: rs138766432
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418974 SCV000512190 benign not specified 2015-08-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002061338 SCV002326420 benign Familial hemiplegic migraine 2023-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259926 SCV002539728 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259928 SCV002539730 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259927 SCV002539731 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259925 SCV002539732 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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