Submissions for variant NM_004393.6(DAG1):c.1701C>T (p.Ser567=)

gnomAD frequency: 0.00456  dbSNP: rs142579425

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244261	SCV000306916	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000244261	SCV000527452	benign	not specified	2018-01-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535392	SCV000650605	benign	Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000244261	SCV001879937	benign	not specified	2021-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437036	SCV004147401	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DAG1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003437036	SCV005303491	benign	not provided		criteria provided, single submitter	not provided