ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2842C>T (p.Pro948Ser)

dbSNP: rs778882347
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002004266 SCV002296926 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-09-06 criteria provided, single submitter clinical testing

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