ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.942A>G (p.Lys314=)

gnomAD frequency: 0.00018  dbSNP: rs150473615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868358 SCV001009675 benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938285 SCV004748927 likely benign GATA1-related condition 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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