ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp)

gnomAD frequency: 0.00004  dbSNP: rs564046722
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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 RCV000309029 SCV000373425 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000908134 SCV001052877 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing

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