ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2013G>A (p.Pro671=)

gnomAD frequency: 0.00001  dbSNP: rs1361271759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192527 SCV002356679 likely benign CHARGE syndrome 2025-01-11 criteria provided, single submitter clinical testing

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