ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.1254G>A (p.Glu418=)

gnomAD frequency: 0.00062  dbSNP: rs117178721
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 RCV000953602 SCV001100180 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502949 SCV002807894 likely benign 8q24.3 microdeletion syndrome 2022-02-25 criteria provided, single submitter clinical testing

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