ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.228G>A (p.Glu76=)

gnomAD frequency: 0.00001  dbSNP: rs1057522598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423251 SCV000528540 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063360 SCV002387116 likely benign Costello syndrome 2024-01-01 criteria provided, single submitter clinical testing

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