Submissions for variant NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=)

gnomAD frequency: 0.00158  dbSNP: rs72832550

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455888	SCV000538959	likely benign	not specified	2016-03-28	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: Silent variant not in splice consensus
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883038	SCV001026311	benign	not provided	2018-12-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000883038	SCV004155109	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	DNAH6: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000883038	SCV005257636	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003970259	SCV004782509	likely benign	DNAH6-related disorder	2019-04-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).