ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.5096+16T>C

gnomAD frequency: 0.97818  dbSNP: rs508112
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251821 SCV000313596 benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000615666 SCV000743964 benign Hereditary spherocytosis type 1 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000615666 SCV001473665 benign Hereditary spherocytosis type 1 2023-11-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000615666 SCV001775126 benign Hereditary spherocytosis type 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001689901 SCV001911232 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Invitae RCV001689901 SCV002464529 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615666 SCV000734605 benign Hereditary spherocytosis type 1 no assertion criteria provided clinical testing

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