ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1704G>A (p.Pro568=)

gnomAD frequency: 0.00001  dbSNP: rs765715877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437432 SCV001640285 likely benign CHARGE syndrome 2022-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488248 SCV002802981 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-20 criteria provided, single submitter clinical testing

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