ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1A>G (p.Met1Val)

dbSNP: rs121918651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000731 SCV001157777 pathogenic not specified 2018-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781258 SCV002023655 likely pathogenic not provided 2022-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001781258 SCV004224605 likely pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing PP1, PP5, PM2, PS4_moderate, PVS1_moderate
OMIM RCV000013693 SCV000033940 pathogenic Hereditary spherocytosis type 2 1998-01-01 no assertion criteria provided literature only

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