ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)

gnomAD frequency: 0.00063  dbSNP: rs146244319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861731 SCV001002123 benign Primary ciliary dyskinesia 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000861731 SCV002723254 benign Primary ciliary dyskinesia 2017-02-06 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.
Fulgent Genetics, Fulgent Genetics RCV002495220 SCV002798820 likely benign Kartagener syndrome 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000861731 SCV001462495 uncertain significance Primary ciliary dyskinesia 2019-11-11 no assertion criteria provided clinical testing

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