Submissions for variant NM_001171.6(ABCC6):c.3507-3C>T

gnomAD frequency: 0.01517  dbSNP: rs41278172

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000393125	SCV000331632	benign	not specified	2016-04-13	criteria provided, single submitter	clinical testing
PXE International	RCV000499267	SCV000589154	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-03-01	criteria provided, single submitter	research
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258225	SCV001435121	likely benign	Finnish congenital nephrotic syndrome		criteria provided, single submitter	research	The heterozygous c.3507-3C>T variant in ABCC6 has been reported in at least 2 individuals with autosomal recessive pseudoxanthoma elasticum (PMID: 16835894). It has also been identified in >3% of European (Finnish) chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive pseudoxanthoma elasticum.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520632	SCV001729785	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253345	SCV002524416	benign	Arterial calcification, generalized, of infancy, 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000499267	SCV002524427	benign	Autosomal recessive inherited pseudoxanthoma elasticum	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253344	SCV002524439	benign	Pseudoxanthoma elasticum, forme fruste	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001520632	SCV002545757	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ABCC6: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002503979	SCV002798143	likely benign	Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	2022-04-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001520632	SCV005213404	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000393125	SCV001744748	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001520632	SCV001799287	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000393125	SCV001925209	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001520632	SCV001928109	likely benign	not provided		no assertion criteria provided	clinical testing