ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.486G>A (p.Gln162=)

gnomAD frequency: 0.00001  dbSNP: rs201635864
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002072850 SCV002324299 likely benign CHARGE syndrome 2023-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494021 SCV002797248 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-15 criteria provided, single submitter clinical testing

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