ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1719C>T (p.His573=)

gnomAD frequency: 0.00036  dbSNP: rs148207416
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724506 SCV000225884 uncertain significance not provided 2015-02-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284039 SCV000373413 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000174564 SCV000615453 benign not specified 2020-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724506 SCV001029069 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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