ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.7806-17AT[7]

dbSNP: rs752949976
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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 RCV002125033 SCV002403132 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500057 SCV002800536 likely benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2022-01-06 criteria provided, single submitter clinical testing

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