ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=)

gnomAD frequency: 0.24002  dbSNP: rs246258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001588044 SCV001822189 benign Holoprosencephaly 12 with or without pancreatic agenesis 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588045 SCV001822190 benign Vissers-Bodmer syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001694140 SCV001908964 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001694140 SCV002360578 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694140 SCV005255018 benign not provided criteria provided, single submitter not provided

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