ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)

dbSNP: rs863225429
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000202351 SCV000257350 pathogenic Ritscher-Schinzel syndrome 2 2015-05-01 no assertion criteria provided literature only
GeneReviews RCV001028072 SCV001190854 not provided Ritscher-Schinzel syndrome 1 no assertion provided literature only

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