ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.75+1G>A

dbSNP: rs1661257691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333634 SCV001526281 pathogenic Diamond-Blackfan anemia 8 2018-07-25 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in at least one patient with Diamond-Blackfan anemia [PMID 25424902, 28102861]

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