Submissions for variant NM_001243177.4(ALDOA):c.1161+17G>T

gnomAD frequency: 0.13976  dbSNP: rs2071390

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000441717	SCV000517513	benign	not specified	2015-12-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000989592	SCV001140086	benign	HNSHA due to aldolase A deficiency	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000989592	SCV001473472	benign	HNSHA due to aldolase A deficiency	2023-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989592	SCV001727133	benign	HNSHA due to aldolase A deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675911	SCV005289074	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675911	SCV000801638	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing