ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.471T>C (p.Asp157=)

dbSNP: rs553035942
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544725 SCV000632375 benign Familial hemiplegic migraine 2023-08-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733775 SCV000861872 likely benign not specified 2018-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001712494 SCV001944551 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259991 SCV002539706 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259993 SCV002539708 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259992 SCV002539709 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259990 SCV002539710 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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