ClinVar Miner

Submissions for variant NM_001171038.2(ASMT):c.562+2T>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003490486 SCV004234522 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003490486 SCV004701916 benign not provided 2024-01-01 criteria provided, single submitter clinical testing ASMT: BS1, BS2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003490486 SCV005089775 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing

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