ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3347-20T>G

gnomAD frequency: 0.00001  dbSNP: rs727505382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002053897 SCV002481049 likely benign RASopathy 2023-12-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000156981 SCV000206703 benign Noonan syndrome 2011-04-19 no assertion criteria provided clinical testing

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