ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.303G>T (p.Val101=) (rs142472642)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233456 SCV000287184 benign Familial platelet disorder with associated myeloid malignancy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233456 SCV000435951 likely benign Familial platelet disorder with associated myeloid malignancy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000680400 SCV000807771 likely benign not provided 2016-05-04 criteria provided, single submitter clinical testing

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