ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=)

dbSNP: rs776570497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325109 SCV000373408 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660602 SCV001880344 benign not specified 2021-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055858 SCV005716892 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing

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