Submissions for variant NM_003975.4(SH2D2A):c.123+181C>T

dbSNP: rs1800601

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434139	SCV000519553	benign	not specified	2016-01-07	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.
Genome-Nilou Lab	RCV001537654	SCV001754583	benign	Hereditary insensitivity to pain with anhidrosis	2021-07-08	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316543	SCV004015454	benign	X-linked lymphoproliferative disease due to SH2D1A deficiency	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715157	SCV005282787	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000434139	SCV001978690	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000434139	SCV001979127	benign	not specified		no assertion criteria provided	clinical testing