ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)

gnomAD frequency: 0.00004  dbSNP: rs529080443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464819 SCV000546319 likely benign Primary ciliary dyskinesia 2023-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003615840 SCV004562445 uncertain significance Primary ciliary dyskinesia 3 2023-08-30 criteria provided, single submitter clinical testing The DNAH5 c.7475C>T; p.Ala2492Val variant (rs529080443), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 407234). This variant is found in the general population with an overall allele frequency of 0.0057% (10/176,774 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.06). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV000464819 SCV002080869 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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