ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly)

gnomAD frequency: 0.00002  dbSNP: rs778728471
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703383 SCV001932298 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726672 SCV001965190 likely benign not provided no assertion criteria provided clinical testing

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