ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002917557 SCV003248814 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167901 SCV003887421 uncertain significance Inborn genetic diseases 2023-02-20 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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