ClinVar Miner

Submissions for variant NM_001756.4(SERPINA6):c.164_165del (p.Val55fs)

dbSNP: rs771441863
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Unit, Institut Pasteur de Montevideo RCV001391242 SCV001593157 likely pathogenic Corticosteroid-binding globulin deficiency 2021-05-11 no assertion criteria provided clinical testing Frameshift deletion, LOF variant, in heterozygous state found in two affected individuals. Variant population frequency is low (less than 0.0002 in ExAC AMR data base).

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