Submissions for variant NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)

gnomAD frequency: 0.00554  dbSNP: rs147122501

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155186	SCV000204872	benign	not specified	2015-06-08	criteria provided, single submitter	clinical testing	Leu46Phe in exon 2 of MYH9: This variant is not expected to have clinical signif icance because it has been identified in 4.5% (295/6600) of Finnish chromosomes including 5 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs147122501).
Eurofins Ntd Llc (ga)	RCV000155186	SCV000227263	benign	not specified	2015-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286819	SCV000438492	benign	MYH9-related disorder	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000339441	SCV000438493	likely benign	Autosomal dominant nonsyndromic hearing loss 17	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.
Invitae	RCV000972196	SCV001119892	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000972196	SCV001144681	benign	not provided	2019-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000972196	SCV001868250	benign	not provided	2018-10-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029, 29090586, 29110756, 25077172, 24130771)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000972196	SCV002048702	benign	not provided	2021-02-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000972196	SCV004147814	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH9: BS1
GenomeConnect, ClinGen	RCV000509473	SCV000607103	not provided	Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000155186	SCV001958814	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000972196	SCV001965547	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000155186	SCV002036353	benign	not specified		no assertion criteria provided	clinical testing