ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)

dbSNP: rs2047407019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197162 SCV001367798 likely pathogenic Cryohydrocytosis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP1,PP2,PP3,PP4.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227254 SCV002506200 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing

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