ClinVar Miner

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

gnomAD frequency: 0.02340  dbSNP: rs10040427
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Total submissions: 10
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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
Invitae 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
Natera, Inc. RCV000022321 SCV001462802 benign Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing

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