ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.5096+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330267 SCV004037301 likely pathogenic Hereditary spherocytosis type 1 2021-07-26 criteria provided, single submitter clinical testing

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