ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.349T>C (p.Trp117Arg)

dbSNP: rs104894040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009431 SCV000029649 pathogenic Holoprosencephaly 3 2005-11-22 no assertion criteria provided literature only
GeneReviews RCV000009431 SCV000087181 pathologic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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