ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3523-12G>A

gnomAD frequency: 0.00006  dbSNP: rs373865383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586398 SCV001812834 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495937 SCV002796262 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003497925 SCV004343829 likely benign CHARGE syndrome 2023-09-23 criteria provided, single submitter clinical testing

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