ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly)

gnomAD frequency: 0.98751  dbSNP: rs4930388
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001518727 SCV005318649 benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV001808735 SCV002056793 benign Autosomal recessive spinocerebellar ataxia 14 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808734 SCV002056792 benign Spinocerebellar ataxia type 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518727 SCV001727480 benign not provided 2026-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000336627 SCV000338643 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000336627 SCV001970316 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000336627 SCV001741781 benign not specified no assertion criteria provided clinical testing

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