ClinVar Miner

Submissions for variant NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)

gnomAD frequency: 0.00004  dbSNP: rs121912749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001121978 SCV001280649 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546457 SCV004274607 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007881 SCV005642255 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 2024-04-17 criteria provided, single submitter clinical testing
OMIM RCV000019346 SCV000039636 pathogenic Hereditary spherocytosis type 4 1998-09-01 no assertion criteria provided literature only

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