ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly)

dbSNP: rs368373337
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839347 SCV002099351 uncertain significance Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 2021-06-22 criteria provided, single submitter clinical testing

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