ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter)

dbSNP: rs1930237390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197202 SCV001367839 uncertain significance Osteopathia striata with cranial sclerosis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PM4. This variant was detected in hemizygous state.

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