ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4474-17C>T

gnomAD frequency: 0.00061  dbSNP: rs192115079
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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 RCV001810597 SCV001474329 benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493512 SCV002794687 likely benign Elliptocytosis 3; Hereditary spherocytosis type 2 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810597 SCV003031944 benign not provided 2023-05-22 criteria provided, single submitter clinical testing

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