ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)

gnomAD frequency: 0.00001  dbSNP: rs1342428273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336850 SCV001530359 uncertain significance Noonan syndrome 4 2018-04-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871894 SCV002150806 likely benign RASopathy 2023-08-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001336850 SCV002763223 uncertain significance Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468233 SCV002763224 uncertain significance Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing

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