Submissions for variant NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)

gnomAD frequency: 0.00180  dbSNP: rs114179357

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427216	SCV000525841	likely benign	not specified	2016-06-03	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.
Eurofins Ntd Llc (ga)	RCV000727421	SCV000708412	uncertain significance	not provided	2017-05-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727421	SCV001035546	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727421	SCV004699442	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ABCC6: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000427216	SCV001923331	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727421	SCV001967314	likely benign	not provided		no assertion criteria provided	clinical testing