ClinVar Miner

Submissions for variant NM_001510.4(GRID2):c.2218G>A (p.Val740Ile)

gnomAD frequency: 0.00306  dbSNP: rs150846341
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966925 SCV001114284 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252275 SCV002523407 likely benign See cases 2019-12-25 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP4

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