ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.411C>G (p.Ser137=)

dbSNP: rs1317598292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002168339 SCV002422742 likely benign CHARGE syndrome 2023-05-24 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252768 SCV002523924 uncertain significance See cases 2020-12-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP7

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