ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)

gnomAD frequency: 0.00003  dbSNP: rs778388054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287938 SCV001474705 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486079 SCV002777534 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2021-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753262 SCV005345942 likely benign SPTBN2-related disorder 2024-07-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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