ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1272A>G (p.Pro424=)

gnomAD frequency: 0.00004  dbSNP: rs760893886
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
Genetic Services Laboratory, University of Chicago RCV000502099 SCV000597010 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727749 SCV004536428 benign not provided 2023-06-16 criteria provided, single submitter clinical testing

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