ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.504A>G (p.Gln168=)

gnomAD frequency: 0.00012  dbSNP: rs370822322
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 RCV000884278 SCV001027645 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000884278 SCV001790838 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing

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