ClinVar Miner

Submissions for variant NM_001256047.1(C19orf12):c.46T>C (p.Ser16Pro) (rs1568332606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000754628 SCV000882544 uncertain significance Neurodegeneration with brain iron accumulation 4 2018-12-14 no assertion criteria provided clinical testing The observed variant NM_001031726.3 :c.79T>C has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of this variant is probably damaging by PolyPhen-2 and damaging by SIFT and MutationTaster2.

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