ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)

gnomAD frequency: 0.00001  dbSNP: rs587783433
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 RCV001471562 SCV001675670 likely benign CHARGE syndrome 2020-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488275 SCV002803367 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-30 criteria provided, single submitter clinical testing

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