ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.304C>A (p.His102Asn)

gnomAD frequency: 0.00002  dbSNP: rs761253760
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 RCV001893925 SCV002171973 benign CHARGE syndrome 2022-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042481 SCV005675214 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-02-07 criteria provided, single submitter clinical testing

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