ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.446-25_*40del

dbSNP: rs1554707622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000496131 SCV000586734 likely pathogenic Amyotrophic lateral sclerosis type 16 criteria provided, single submitter clinical testing

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