ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3335+2T>A

dbSNP: rs398123007
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 RCV000077794 SCV000109621 pathogenic Ritscher-Schinzel syndrome 1 2013-12-01 no assertion criteria provided literature only
GeneReviews RCV000077794 SCV001190856 not provided Ritscher-Schinzel syndrome 1 no assertion provided literature only

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