ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3345C>G (p.Ala1115=) (rs142020270)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252372 SCV000312302 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713205 SCV000843791 likely benign not provided 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV001085624 SCV001016832 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-12-31 criteria provided, single submitter clinical testing

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