ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)

gnomAD frequency: 0.00001  dbSNP: rs771251344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001172433 SCV001335492 pathogenic Fraser syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001172433 SCV004098987 likely pathogenic Fraser syndrome 1 2023-09-28 criteria provided, single submitter clinical testing This variant is present in compound heterozygosity with another variant in the same gene in a patient with polymalformative syndrome including microtia, deafness, facial asymetry, syndactyly and brachydactyly.

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