ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2805+7T>G

dbSNP: rs1652909073
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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 RCV001195850 SCV001366270 uncertain significance Hereditary spherocytosis type 3 2019-01-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Breakthrough Genomics, Breakthrough Genomics RCV004691384 SCV005186978 uncertain significance not provided criteria provided, single submitter not provided

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