ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9119-36A>G

gnomAD frequency: 0.43696  dbSNP: rs2723222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245265 SCV002514113 benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709193 SCV005240978 benign not provided criteria provided, single submitter not provided

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