ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn)

gnomAD frequency: 0.00004  dbSNP: rs200538725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849228 SCV001960874 uncertain significance Autosomal dominant cerebellar ataxia 2021-07-22 no assertion criteria provided research

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