ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)

gnomAD frequency: 0.00097  dbSNP: rs149806390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593122 SCV000707720 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087078 SCV001021549 likely benign Biotin-responsive basal ganglia disease 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000593122 SCV001145658 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000593122 SCV004226018 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing

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