ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) (rs145097270)

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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 RCV000517650 SCV000615177 likely benign not provided 2018-01-15 criteria provided, single submitter clinical testing
Invitae RCV000529228 SCV000645249 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-11-22 criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515959 SCV000574501 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research

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