ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) (rs387907136)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024193 SCV000045484 pathogenic Cone-rod dystrophy 16 2012-01-13 no assertion criteria provided literature only
OMIM RCV000477682 SCV000564238 pathogenic Bardet-Biedl syndrome 21 2012-01-13 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002908 SCV001160943 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Faculty of Health Sciences,Beirut Arab University RCV001257837 SCV001434700 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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