ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)

gnomAD frequency: 0.00002  dbSNP: rs180970138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245120 SCV000307569 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854957 SCV002279178 benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001854957 SCV004857351 uncertain significance Primary ciliary dyskinesia 2021-08-16 criteria provided, single submitter clinical testing The c.7334C>T (p.S2445L) alteration is located in exon 45 (coding exon 45) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 7334, causing the serine (S) at amino acid position 2445 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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