ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.88-7T>A

gnomAD frequency: 0.00003  dbSNP: rs1416502603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604924 SCV000722100 likely benign not specified 2017-08-15 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 RCV003655143 SCV004512912 likely benign RASopathy 2023-05-22 criteria provided, single submitter clinical testing

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