ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)

gnomAD frequency: 0.02899  dbSNP: rs56691712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531477 SCV000636709 benign Nance-Horan syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312192 SCV000846505 benign Inborn genetic diseases 2014-11-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001650961 SCV001865376 benign not provided 2019-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117791 SCV000152052 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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