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
GeneReviews RCV000001327 SCV000041736 not provided Peters plus syndrome no assertion provided literature only
OMIM RCV000001327 SCV000021477 pathogenic Peters plus syndrome 2006-09-01 no assertion criteria provided literature only

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