ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)

gnomAD frequency: 0.00059  dbSNP: rs150705788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000022325 SCV000452727 uncertain significance Renal carnitine transport defect 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000022325 SCV000632549 likely benign Renal carnitine transport defect 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001711135 SCV001943920 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000022325 SCV002055745 likely benign Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711135 SCV003916983 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SLC22A5: BP4, BP7
Natera, Inc. RCV000022325 SCV001458328 uncertain significance Renal carnitine transport defect 2020-06-23 no assertion criteria provided clinical testing

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