ClinVar Miner

Submissions for variant NM_152732.5(RSPH9):c.671-4259C>T

gnomAD frequency: 0.01819  dbSNP: rs41281830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151750 SCV000200129 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 722+10C>T in intron 5 of RSPH9: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 4.5% (8/178) of English and Scottish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs41281830).
GeneDx RCV001571252 SCV001795685 likely benign not provided 2019-06-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803045 SCV002049161 benign Primary ciliary dyskinesia 12 2024-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571252 SCV005223867 likely benign not provided criteria provided, single submitter not provided

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