ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1668-16A>G

gnomAD frequency: 0.00013  dbSNP: rs371322188
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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 RCV002200389 SCV002359991 likely benign CHARGE syndrome 2023-07-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507905 SCV002810060 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-06 criteria provided, single submitter clinical testing

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