Submissions for variant NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)

gnomAD frequency: 0.00723  dbSNP: rs35962914

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117689	SCV000151936	benign	not specified	2016-02-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970024	SCV001117578	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115464	SCV001273442	likely benign	Hecht syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000970024	SCV002584178	likely benign	not provided	2024-09-09	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics	RCV002498519	SCV002810800	likely benign	Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome	2021-12-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000970024	SCV005211665	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891625	SCV000309003	benign	MYH8-related disorder	2019-04-01	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).