ClinVar Miner

Submissions for variant NM_000324.3(RHAG):c.194T>C (p.Phe65Ser)

dbSNP: rs863225468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781607 SCV002020796 pathogenic not provided 2021-06-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001781607 SCV004227534 pathogenic not provided 2023-01-12 criteria provided, single submitter clinical testing PP1_strong, PP3, PP5, PM2, PM6, PS3, PS4_moderate
OMIM RCV000202428 SCV000257485 pathogenic Overhydrated hereditary stomatocytosis 2013-05-01 no assertion criteria provided literature only

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