Submissions for variant NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp)

gnomAD frequency: 0.00237  dbSNP: rs34471889

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704480	SCV000531052	likely benign	not provided	2019-04-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534460	SCV000640627	likely benign	Nemaline myopathy 2	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002522459	SCV003711658	uncertain significance	Inborn genetic diseases	2021-10-05	criteria provided, single submitter	clinical testing	The c.13550G>A (p.G4517D) alteration is located in exon 92 (coding exon 90) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 13550, causing the glycine (G) at amino acid position 4517 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV001704480	SCV005255861	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001704480	SCV002033823	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001704480	SCV002035638	likely benign	not provided		no assertion criteria provided	clinical testing