ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2175A>G (p.Ser725=)

gnomAD frequency: 0.00001  dbSNP: rs1471731176
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 RCV000874576 SCV001016768 likely benign CHARGE syndrome 2024-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047137 SCV005681957 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-04-01 criteria provided, single submitter clinical testing

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