ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) (rs137853341)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000009436 SCV000784568 uncertain significance Holoprosencephaly 3 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662212 SCV000784569 uncertain significance SCHIZENCEPHALY 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662213 SCV000784570 uncertain significance Microphthalmia, isolated, with coloboma 5 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662214 SCV000784571 uncertain significance Single median maxillary incisor 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000009436 SCV000029654 pathogenic Holoprosencephaly 3 1997-10-01 no assertion criteria provided literature only
GeneReviews RCV000009436 SCV000087133 pathologic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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