ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)

gnomAD frequency: 0.00396  dbSNP: rs142204796
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203069 SCV000258065 benign not specified 2015-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000206468 SCV000259837 benign CHARGE syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001722115 SCV001947253 benign not provided 2020-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503797 SCV002810067 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia 2022-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722115 SCV004162401 benign not provided 2022-06-01 criteria provided, single submitter clinical testing SEMA3E: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001722115 SCV005267447 benign not provided criteria provided, single submitter not provided

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