ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)

gnomAD frequency: 0.00001  dbSNP: rs121918645
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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 RCV001781257 SCV002023648 likely pathogenic not provided 2021-06-22 criteria provided, single submitter clinical testing
OMIM RCV000013679 SCV000033926 pathogenic Elliptocytosis 3 2018-04-25 no assertion criteria provided literature only

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