ClinVar Miner

Submissions for variant NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) (rs146370051)

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Total submissions: 4
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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 RCV000714753 SCV000845481 likely benign not specified 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000885821 SCV001029293 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988384 SCV001138084 benign Spinal muscular atrophy with congenital bone fractures 2 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000024125 SCV000045416 pathogenic Barrett esophagus/esophageal adenocarcinoma 2011-07-27 no assertion criteria provided literature only

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