ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.720+25C>G

gnomAD frequency: 0.92897  dbSNP: rs997344
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253007 SCV000311206 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000157031 SCV001157257 benign Noonan syndrome 2019-03-03 criteria provided, single submitter clinical testing
GeneDx RCV001089759 SCV001916705 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808426 SCV002057529 benign Noonan syndrome 4 2021-07-15 criteria provided, single submitter clinical testing
GenomeConnect - CFC International RCV001089759 SCV001245252 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-30-2009 by Lab or GTR ID 239772. GenomeConnect-CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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