ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5050+17C>G

gnomAD frequency: 0.00001  dbSNP: rs907564726
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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 RCV002130812 SCV002442807 likely benign CHARGE syndrome 2021-09-17 criteria provided, single submitter clinical testing

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