ClinVar Miner

Submissions for variant NM_001063.4(TF):c.1444C>T (p.Pro482Ser)

dbSNP: rs2107925842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002274256 SCV002558794 likely pathogenic Atransferrinemia no assertion criteria provided clinical testing

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