ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.486-18C>T

gnomAD frequency: 0.00031  dbSNP: rs201023917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810772 SCV002048208 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506835 SCV002807972 likely benign 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 2021-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810772 SCV002937410 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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