ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.1A>T (p.Met1Leu)

dbSNP: rs143951267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310994 SCV001501002 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
OMIM RCV000006497 SCV000026680 pathogenic Diamond-Blackfan anemia 10 2010-02-12 no assertion criteria provided literature only

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