ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.603G>T (p.Ala201=)

gnomAD frequency: 0.49353  dbSNP: rs2722985
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246563 SCV000311926 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000860125 SCV001000051 benign CHARGE association 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001541363 SCV001759351 benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860125 SCV002054754 benign CHARGE association 2021-07-15 criteria provided, single submitter clinical testing

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