ClinVar Miner

Submissions for variant NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg)

gnomAD frequency: 0.00186  dbSNP: rs56025238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785148 SCV000923711 likely benign not specified 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000001993 SCV000022151 pathogenic SCIANNA BLOOD GROUP SYSTEM, SC:-1,2 2003-01-15 no assertion criteria provided literature only

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