ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4881C>T (p.His1627=)

gnomAD frequency: 0.00003  dbSNP: rs774433565
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 RCV002204850 SCV002359265 likely benign CHARGE syndrome 2023-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479874 SCV002801661 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-11-06 criteria provided, single submitter clinical testing

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