ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)

gnomAD frequency: 0.00056  dbSNP: rs147766428
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000585022 SCV000615500 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585022 SCV000692717 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000585022 SCV002342286 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244994 SCV002512504 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2021-08-27 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting
Ambry Genetics RCV002525090 SCV003695825 uncertain significance Inborn genetic diseases 2022-02-15 criteria provided, single submitter clinical testing Unlikely to be causative of SPTBN2-related spinocerebellar ataxia (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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