ClinVar Miner

Submissions for variant NM_033550.4(TP53RK):c.337A>G (p.Met113Val)

gnomAD frequency: 0.00022  dbSNP: rs45570735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334428 SCV001527274 uncertain significance Galloway-Mowat syndrome 4 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001334428 SCV002793453 likely benign Galloway-Mowat syndrome 4 2024-06-05 criteria provided, single submitter clinical testing

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