ClinVar Miner

Submissions for variant NM_080860.4(RSPH1):c.365+13T>C

gnomAD frequency: 0.00482  dbSNP: rs181902996
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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 RCV000613128 SCV000711589 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 365+13T>C in intron 4 of RSPH1: 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 0.6% (55/8600) of European American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs181902996).
GeneDx RCV001591361 SCV001816358 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065194 SCV002336642 benign Primary ciliary dyskinesia 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001591361 SCV005206353 likely benign not provided criteria provided, single submitter not provided

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