ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)

dbSNP: rs987032967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249035 SCV002516320 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252777 SCV002523660 uncertain significance See cases 2020-04-23 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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