ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.820G>A (p.Val274Ile)

gnomAD frequency: 0.00001  dbSNP: rs1555094289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392237 SCV000373859 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252092 SCV002523339 uncertain significance See cases 2019-11-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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