ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)

gnomAD frequency: 0.04821  dbSNP: rs623022
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319541 SCV000373371 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518507 SCV000615484 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518725 SCV001727477 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001518725 SCV001950905 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518725 SCV005216667 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983005 SCV004796109 benign SPTBN2-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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