ClinVar Miner

Submissions for variant NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)

gnomAD frequency: 0.00844  dbSNP: rs150362958
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227642 SCV000286375 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000251042 SCV000307135 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000251042 SCV000538802 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001540191 SCV001758048 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000227642 SCV002699572 benign Primary ciliary dyskinesia 2019-03-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV001540191 SCV004145522 benign not provided 2024-06-01 criteria provided, single submitter clinical testing DNAAF3: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003640879 SCV004563890 benign Primary ciliary dyskinesia 2 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001540191 SCV005206068 likely benign not provided criteria provided, single submitter not provided

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