ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.3764+9G>A

gnomAD frequency: 0.00537  dbSNP: rs150423485
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227305 SCV002505997 benign not provided 2023-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505888 SCV002808645 likely benign Elliptocytosis 3; Hereditary spherocytosis type 2 2022-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002227305 SCV003339194 benign not provided 2023-06-30 criteria provided, single submitter clinical testing

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