ClinVar Miner

Submissions for variant NM_017449.5(EPHB2):c.2625A>G (p.Gln875=)

gnomAD frequency: 0.00638  dbSNP: rs55993650
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950048 SCV001096326 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000950048 SCV005282027 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000950048 SCV001807993 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000950048 SCV001956383 likely benign not provided no assertion criteria provided clinical testing

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