ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)

gnomAD frequency: 0.00006  dbSNP: rs761503297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518129 SCV000616228 likely benign not specified 2017-03-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730263 SCV000857989 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730263 SCV001060517 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing

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