ClinVar Miner

Submissions for variant NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr)

gnomAD frequency: 0.00640  dbSNP: rs61735719
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202969 SCV000257893 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951061 SCV001097420 benign not provided 2018-07-26 criteria provided, single submitter clinical testing

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