ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4170C>T (p.Pro1390=)

dbSNP: rs907362259
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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 RCV002188753 SCV002482789 likely benign CHARGE syndrome 2023-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500399 SCV002813129 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-05 criteria provided, single submitter clinical testing

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