ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.680A>G (p.Asn227Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813339 SCV005438158 uncertain significance Hereditary spherocytosis type 2 2024-12-17 criteria provided, single submitter clinical testing

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