ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)

gnomAD frequency: 0.00819  dbSNP: rs114788199
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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 RCV000319313 SCV000373388 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001283517 SCV000843611 benign not specified 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713044 SCV001115659 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000713044 SCV002552995 likely benign not provided 2022-01-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000713044 SCV005216723 likely benign not provided criteria provided, single submitter not provided

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