ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu)

dbSNP: rs1220335751
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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 RCV001214116 SCV001385782 likely benign Primary ciliary dyskinesia 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001214116 SCV003742773 uncertain significance Primary ciliary dyskinesia 2021-09-17 criteria provided, single submitter clinical testing The c.1097A>T (p.H366L) alteration is located in exon 6 (coding exon 6) of the DNAH11 gene. This alteration results from a A to T substitution at nucleotide position 1097, causing the histidine (H) at amino acid position 366 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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