Submissions for variant NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)

dbSNP: rs796065338

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180764	SCV000233252	benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing
Invitae	RCV001081238	SCV000640639	likely benign	Nemaline myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586460	SCV000697810	benign	not provided	2017-04-24	criteria provided, single submitter	clinical testing	Variant summary: The NEB c.19285_19286delinsAA (p.Ala6429delinsAsn) variant causes a missense change involving the alteration of a conserved nucleotide. One in silico tool predicts a damaging outcome for this variant. This variant was found in 570/100068 control chromosomes at a frequency of 0.0056961, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Athena Diagnostics	RCV000586460	SCV001144710	benign	not provided	2019-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000586460	SCV001940584	benign	not provided	2017-02-06	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000586460	SCV004224963	uncertain significance	not provided	2023-05-16	criteria provided, single submitter	clinical testing