ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)

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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 RCV003851094 SCV004695424 benign Primary ciliary dyskinesia 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003851094 SCV004857371 uncertain significance Primary ciliary dyskinesia 2023-10-05 criteria provided, single submitter clinical testing The c.958G>A (p.D320N) alteration is located in exon 5 (coding exon 5) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 958, causing the aspartic acid (D) at amino acid position 320 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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