ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.444G>C (p.Pro148=)

dbSNP: rs147896150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177417 SCV000229273 uncertain significance not provided 2014-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081609 SCV000658977 benign Anophthalmia-microphthalmia syndrome 2024-01-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699222 SCV001923619 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000177417 SCV001967485 likely benign not provided no assertion criteria provided clinical testing

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