ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)

dbSNP: rs148170067
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059827 SCV001224475 likely benign not provided 2023-10-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123578 SCV001282428 uncertain significance Hereditary spherocytosis type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001127676 SCV001287013 uncertain significance Hemolytic anemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001127677 SCV001287014 benign Autosomal dominant distal renal tubular acidosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001059827 SCV002049807 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001059827 SCV003821420 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001059827 SCV004224379 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012507 SCV005642235 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2024-04-23 criteria provided, single submitter clinical testing

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