Submissions for variant NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)

gnomAD frequency: 0.00522  dbSNP: rs72655977

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155482	SCV000205178	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ser313Ser in exon 5 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.8% (69/8254) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs72655977).
PreventionGenetics, part of Exact Sciences	RCV000155482	SCV000307603	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000155482	SCV000339404	benign	not specified	2016-02-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000296338	SCV000468044	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000296338	SCV000562009	benign	Primary ciliary dyskinesia	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310953	SCV001500951	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DNAH11: BP4, BP7, BS2
GeneDx	RCV001310953	SCV001818127	likely benign	not provided	2020-09-07	criteria provided, single submitter	clinical testing