ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1999-17C>T

gnomAD frequency: 0.00543  dbSNP: rs28571216
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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 RCV001802636 SCV002049158 benign Hereditary spherocytosis type 1 2023-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074169 SCV002405741 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001802636 SCV002524972 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001802636 SCV002811781 likely benign Hereditary spherocytosis type 1 2022-05-17 criteria provided, single submitter clinical testing

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