ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1795+1G>A

dbSNP: rs786204766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781529 SCV002021956 pathogenic not provided 2021-06-08 criteria provided, single submitter clinical testing
Molecular Genetic Center, Genetaq RCV000169630 SCV000221159 likely pathogenic Hereditary spherocytosis type 2 2015-02-01 no assertion criteria provided clinical testing

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