ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.604-132G>A

gnomAD frequency: 0.30120  dbSNP: rs6856362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606403 SCV000734340 benign Fraser syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703214 SCV001930284 benign not specified no assertion criteria provided clinical testing

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