ClinVar Miner

Submissions for variant NM_002810.4(PSMD4):c.276G>C (p.Val92=)

gnomAD frequency: 0.00036  dbSNP: rs139032841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950370 SCV001096674 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950370 SCV004124617 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PSMD4: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000950370 SCV005284028 benign not provided criteria provided, single submitter not provided

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