ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.3977-4C>A

gnomAD frequency: 0.98394  dbSNP: rs2370838
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617150 SCV001846472 benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001617150 SCV002367442 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243333 SCV002514091 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617150 SCV005240969 benign not provided criteria provided, single submitter not provided

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