ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)

gnomAD frequency: 0.00069  dbSNP: rs192697566
Minimum review status: Collection method:
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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 RCV001509681 SCV001716518 benign CHARGE syndrome 2023-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501302 SCV002807738 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2021-12-06 criteria provided, single submitter clinical testing

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