ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1047T>C (p.Gly349=)

gnomAD frequency: 0.00001  dbSNP: rs199869304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813696 SCV002060873 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074236 SCV002464412 likely benign RASopathy 2023-10-28 criteria provided, single submitter clinical testing

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