ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)

gnomAD frequency: 0.00274  dbSNP: rs151261004
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329715 SCV000385479 likely benign Lysinuric protein intolerance 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001706476 SCV000514692 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV000329715 SCV000632020 benign Lysinuric protein intolerance 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000329715 SCV002045750 benign Lysinuric protein intolerance 2021-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262979 SCV002542957 uncertain significance Autoinflammatory syndrome 2021-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000329715 SCV001466806 likely benign Lysinuric protein intolerance 2020-04-03 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706476 SCV001929247 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706476 SCV001972552 likely benign not provided no assertion criteria provided clinical testing

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