ClinVar Miner

Submissions for variant NM_006939.4(SOS2):c.338C>T (p.Ser113Leu)

gnomAD frequency: 0.00004  dbSNP: rs751240491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243187 SCV001416326 benign Noonan syndrome 9 2023-10-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692310 SCV005191368 uncertain significance not provided criteria provided, single submitter not provided

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