ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp)

gnomAD frequency: 0.00005  dbSNP: rs148878156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315842 SCV000373385 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090444 SCV005837098 likely benign not provided 2024-11-24 criteria provided, single submitter clinical testing

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