ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)

dbSNP: rs747298346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003879000 SCV004679069 likely benign CHARGE syndrome 2023-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040598 SCV005682002 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-03-18 criteria provided, single submitter clinical testing

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