ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.900T>C (p.Asn300=)

gnomAD frequency: 0.01156  dbSNP: rs28505908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085991 SCV000755758 benign CHARGE syndrome 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000634449 SCV001145302 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000634449 SCV001816270 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000634449 SCV005220929 likely benign not provided criteria provided, single submitter not provided

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