ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.667C>T (p.Gln223Ter)

dbSNP: rs2106054066
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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 RCV002252830 SCV002522764 likely pathogenic See cases 2021-07-06 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2

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