ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)

gnomAD frequency: 0.00009  dbSNP: rs368488165
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002020057 SCV002289395 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002020057 SCV002821233 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing

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