ClinVar Miner

Submissions for variant NM_032844.4(MASTL):c.-226G>A

gnomAD frequency: 0.00223  dbSNP: rs566954562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350832 SCV000362099 uncertain significance Thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692904 SCV005190694 uncertain significance not provided criteria provided, single submitter not provided

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