Submissions for variant NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)

gnomAD frequency: 0.00033  dbSNP: rs112419003

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652860	SCV000774732	likely benign	Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to	2024-12-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712223	SCV000842661	uncertain significance	not provided	2018-05-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004025888	SCV003739760	uncertain significance	not specified	2022-10-26	criteria provided, single submitter	clinical testing	The c.514G>T (p.A172S) alteration is located in exon 4 (coding exon 4) of the LMNB2 gene. This alteration results from a G to T substitution at nucleotide position 514, causing the alanine (A) at amino acid position 172 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000712223	SCV004141373	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	LMNB2: BP4
Fulgent Genetics, Fulgent Genetics	RCV005019087	SCV005648231	uncertain significance	Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant	2024-05-01	criteria provided, single submitter	clinical testing