ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4047C>T (p.Ile1349=)

gnomAD frequency: 0.00001  dbSNP: rs747100145
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 RCV002098607 SCV002399549 likely benign CHARGE syndrome 2023-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499944 SCV002811248 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-08-03 criteria provided, single submitter clinical testing

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