ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)

dbSNP: rs766944646
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Total submissions: 2
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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 RCV002252853 SCV002522810 uncertain significance See cases 2021-09-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003094105 SCV003269112 likely benign not provided 2024-10-30 criteria provided, single submitter clinical testing

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