ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1890+1G>A

dbSNP: rs1567830555
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761960 SCV000892188 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing SLC4A1: PVS1, PM2, PP1
Revvity Omics, Revvity RCV000761960 SCV003815255 likely pathogenic not provided 2023-01-16 criteria provided, single submitter clinical testing

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