ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844921 SCV000986734 not provided Spinocerebellar ataxia, autosomal recessive 8 no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 12/30/2014 by GTR ID 21766. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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