ClinVar Miner

Submissions for variant NM_001098484.3(SLC4A4):c.2241C>T (p.Gly747=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039274 SCV005667689 uncertain significance Autosomal recessive proximal renal tubular acidosis 2024-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005063285 SCV005721559 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing

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