ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1830C>T (p.Ser610=)

gnomAD frequency: 0.00008  dbSNP: rs368803937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192989 SCV000248395 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000955118 SCV000522972 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955118 SCV001101804 benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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