ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136630 SCV003827530 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778788 SCV004568710 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-09-24 criteria provided, single submitter clinical testing

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