Submissions for variant NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)

gnomAD frequency: 0.00009  dbSNP: rs200684767

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547812	SCV000656606	likely benign	Congenital myasthenic syndrome 2A	2024-11-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001579413	SCV003832098	uncertain significance	not provided	2020-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003352925	SCV004062996	uncertain significance	Inborn genetic diseases	2023-06-29	criteria provided, single submitter	clinical testing	The c.647G>A (p.R216Q) alteration is located in exon 7 (coding exon 7) of the CHRNB1 gene. This alteration results from a G to A substitution at nucleotide position 647, causing the arginine (R) at amino acid position 216 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579413	SCV001807142	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579413	SCV001927403	uncertain significance	not provided		no assertion criteria provided	clinical testing