ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro)

gnomAD frequency: 0.00001  dbSNP: rs121918635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137514 SCV003822638 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing
OMIM RCV000013698 SCV000033945 pathogenic Elliptocytosis 2 1989-10-01 no assertion criteria provided literature only

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