ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.873C>T (p.Asn291=)

gnomAD frequency: 0.00013  dbSNP: rs149755302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482285 SCV001686649 likely benign Primary ciliary dyskinesia 2024-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001482285 SCV004096841 likely benign Primary ciliary dyskinesia 2023-06-26 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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