ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)

gnomAD frequency: 0.00003  dbSNP: rs756080695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999254 SCV001155784 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550734 SCV003444970 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-05-27 criteria provided, single submitter clinical testing

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