ClinVar Miner

Submissions for variant NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)

gnomAD frequency: 0.00846  dbSNP: rs141178932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964409 SCV001111613 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV002280102 SCV002568422 likely pathogenic Microcephalic primordial dwarfism, Alazami type 2022-06-15 criteria provided, single submitter clinical testing Upon physical exam this individual was confirmed to clinically have Alazami syndrome. Also found to have telomere shortening (< 10%) by RepeatDx.
CeGaT Center for Human Genetics Tuebingen RCV000964409 SCV002821267 benign not provided 2024-07-01 criteria provided, single submitter clinical testing LARP7: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964409 SCV005304479 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117486 SCV000151704 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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