ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1366+10C>T

gnomAD frequency: 0.00006  dbSNP: rs144608744
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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 RCV002064557 SCV002427010 likely benign CHARGE syndrome 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495274 SCV002798648 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-11 criteria provided, single submitter clinical testing

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