ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1606T>G (p.Leu536Val)

dbSNP: rs756631380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253132 SCV002523309 uncertain significance See cases 2019-10-21 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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