ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3463C>T (p.Arg1155Trp) (rs1457740942)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - CFC International RCV000999630 SCV001156340 not provided Microcephaly and chorioretinopathy, autosomal recessive, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-18-2012 by Lab or GTR ID 1006. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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