ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.234G>A (p.Val78=)

gnomAD frequency: 0.01155  dbSNP: rs78309877
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280440 SCV000373433 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001283518 SCV000843599 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713032 SCV001109268 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000713032 SCV002512865 likely benign not provided 2022-05-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000713032 SCV005213174 likely benign not provided criteria provided, single submitter not provided

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