Submissions for variant NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn)

gnomAD frequency: 0.00934  dbSNP: rs192110266

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437196	SCV000515901	benign	not specified	2016-05-02	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	RCV000892695	SCV001036588	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253416	SCV002524247	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499083	SCV002524248	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253415	SCV002524249	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000892695	SCV005290320	benign	not provided		criteria provided, single submitter	not provided
PXE International	RCV000499083	SCV000589221	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000437196	SCV001925607	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000437196	SCV001971359	benign	not specified		no assertion criteria provided	clinical testing