ClinVar Miner

Submissions for variant NM_001550.4(IFRD1):c.985A>G (p.Lys329Glu)

gnomAD frequency: 0.00001  dbSNP: rs745545141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001700819 SCV001922678 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700819 SCV001971087 uncertain significance not provided no assertion criteria provided clinical testing

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