ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)

gnomAD frequency: 0.00001  dbSNP: rs748176965
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176291 SCV000227922 likely benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176291 SCV002066128 benign not specified 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546486 SCV004266949 benign not provided 2024-09-21 criteria provided, single submitter clinical testing

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