ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.152dup (p.Asn51fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV003320009 SCV004024224 likely pathogenic Spastic ataxia 1 criteria provided, single submitter clinical testing

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