ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)

dbSNP: rs121909248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008557 SCV000028765 pathogenic Anterior segment dysgenesis 4 1998-01-01 no assertion criteria provided literature only
Eye Genetics Research Group, Children's Medical Research Institute RCV001200029 SCV001370521 pathogenic Anterior segment dysgenesis 2020-03-31 no assertion criteria provided clinical testing

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