ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9453A>G (p.Gln3151=)

gnomAD frequency: 0.00001  dbSNP: rs755213717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943750 SCV001089704 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231986 SCV005879856 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2024-11-14 criteria provided, single submitter clinical testing

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