ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=)

gnomAD frequency: 0.00238  dbSNP: rs77708914
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 RCV000957563 SCV001104373 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957563 SCV004151282 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing UNC80: BP4, BP7

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