Submissions for variant NM_002472.3(MYH8):c.1632T>C (p.Pro544=)

gnomAD frequency: 0.00409  dbSNP: rs144596237

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000955215	SCV001101908	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115563	SCV001273550	likely benign	Hecht syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics	RCV002489324	SCV002795119	likely benign	Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome	2021-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000955215	SCV004141980	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	MYH8: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003960662	SCV004774045	benign	MYH8-related disorder	2019-09-13	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).