Submissions for variant NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)

gnomAD frequency: 0.59744  dbSNP: rs7252988

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244374	SCV000315969	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000244374	SCV000338322	benign	not specified	2015-12-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244374	SCV000538604	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516684	SCV001724997	benign	Primary ciliary dyskinesia	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001707599	SCV001936461	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001516684	SCV002755608	benign	Primary ciliary dyskinesia	2016-07-07	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001707599	SCV005313322	benign	not provided		criteria provided, single submitter	not provided