ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2473= (p.Ser825=)

gnomAD frequency: 0.01249  dbSNP: rs4930388
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959983 SCV001106925 benign not provided 2026-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576642 SCV000677448 benign Spinocerebellar ataxia type 5 2017-06-16 criteria provided, single submitter clinical testing

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