ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) (rs387906835)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023187 SCV000044478 pathogenic Leber congenital amaurosis 15 2004-04-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000023187 SCV001432541 pathogenic Leber congenital amaurosis 15 no assertion criteria provided research

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