ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp)

dbSNP: rs1554781552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623388 SCV000742317 likely pathogenic Inborn genetic diseases 2017-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002060692 SCV002498053 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing

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