ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.347+5G>A

gnomAD frequency: 0.00003  dbSNP: rs80338850
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 RCV000001327 SCV000021477 pathogenic Peters plus syndrome 2006-09-01 no assertion criteria provided literature only
GeneReviews RCV000001327 SCV000041736 not provided Peters plus syndrome no assertion provided literature only

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