ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)

gnomAD frequency: 0.00001  dbSNP: rs751026146
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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 RCV001198343 SCV001369247 pathogenic Hereditary spherocytosis type 3 2019-09-04 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
Revvity Omics, Revvity RCV003490109 SCV004238702 likely pathogenic not provided 2023-06-08 criteria provided, single submitter clinical testing

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