ClinVar Miner

Submissions for variant NM_001014987.2(LAT):c.318T>C (p.Ser106=)

gnomAD frequency: 0.00284  dbSNP: rs140327086
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518027 SCV001726655 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506623 SCV002805654 likely benign Severe combined immunodeficiency due to LAT deficiency 2021-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001518027 SCV004698245 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LAT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001518027 SCV005296108 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001518027 SCV001930903 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001518027 SCV001963867 likely benign not provided no assertion criteria provided clinical testing

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