ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4899A>G (p.Gln1633=)

gnomAD frequency: 0.00001  dbSNP: rs761002319
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021682 SCV002316801 likely benign CHARGE syndrome 2024-12-23 criteria provided, single submitter clinical testing

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