ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2097-20C>T

gnomAD frequency: 0.00003  dbSNP: rs569155117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002086236 SCV002426501 likely benign CHARGE syndrome 2024-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883779 SCV004702047 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CHD7: BP4
Breakthrough Genomics, Breakthrough Genomics RCV003883779 SCV005223607 likely benign not provided criteria provided, single submitter not provided

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