ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2482-7C>T

gnomAD frequency: 0.00063  dbSNP: rs371728036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938840 SCV001084665 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479083 SCV002802370 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 2022-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553364 SCV004722037 likely benign SLC4A1-related disorder 2020-01-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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