ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser)

gnomAD frequency: 0.00012  dbSNP: rs150084635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174733 SCV000226094 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174733 SCV003786288 benign not provided 2023-07-25 criteria provided, single submitter clinical testing

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