Submissions for variant NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)

gnomAD frequency: 0.02340  dbSNP: rs10040427

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153962	SCV000203581	benign	not specified	2014-01-21	criteria provided, single submitter	clinical testing
Counsyl	RCV000022321	SCV000220216	benign	Renal carnitine transport defect	2014-04-09	criteria provided, single submitter	literature only
Illumina Laboratory Services, Illumina	RCV000022321	SCV000452728	likely benign	Renal carnitine transport defect	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000022321	SCV000605138	benign	Renal carnitine transport defect	2023-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000022321	SCV000632551	benign	Renal carnitine transport defect	2024-02-01	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000153962	SCV000803461	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (PMID:16931768).
GeneDx	RCV001705598	SCV001882281	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000022321	SCV002055870	benign	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Giacomini Lab, University of California, San Francisco	RCV000022321	SCV002576722	likely benign	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001705598	SCV005226439	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000022321	SCV001462802	benign	Renal carnitine transport defect	2020-09-16	no assertion criteria provided	clinical testing