ClinVar Miner

Submissions for variant NM_144639.3(UROC1):c.384T>C (p.Asn128=)

gnomAD frequency: 0.00551  dbSNP: rs34506298
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952512 SCV001099022 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952512 SCV002544832 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing UROC1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000952512 SCV005303682 benign not provided criteria provided, single submitter not provided

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