ClinVar Miner

Submissions for variant NM_020717.5(SHROOM4):c.1972A>G (p.Met658Val)

gnomAD frequency: 0.00110  dbSNP: rs188714648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572799 SCV001797729 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726587 SCV001968392 benign not specified no assertion criteria provided clinical testing

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