ClinVar Miner

Submissions for variant NM_003038.5(SLC1A4):c.65C>T (p.Pro22Leu)

gnomAD frequency: 0.00073  dbSNP: rs201175768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762268 SCV000892562 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000762268 SCV002483885 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908073 SCV004724015 benign SLC1A4-related disorder 2021-07-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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