ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)

gnomAD frequency: 0.00271  dbSNP: rs199536442
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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) RCV000174174 SCV000225430 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174174 SCV001033156 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000174174 SCV001826940 likely benign not provided 2019-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000174174 SCV004164024 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SLC34A3: BP4, BP7

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