ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) (rs200786705)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521508 SCV000616519 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1705C>G (p.Leu569Val) variant in the SOS1 gene is 0.0336% (31/66714) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223591 SCV000270858 likely benign not specified 2015-12-16 criteria provided, single submitter clinical testing p.Leu569Val in exon 10 of SOS1: This variant is not expected to have clinical s ignificance because it has been identified in 31/66714 European chromosomes and 6/16504 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org/; dbSNP rs200786705). It has also been reported in 1 u naffected adult in the homozygous state (Lepri 2011).
Athena Diagnostics Inc RCV000223591 SCV000615372 uncertain significance not specified 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV000521508 SCV001000851 benign Rasopathy 2020-12-02 criteria provided, single submitter clinical testing
Mendelics RCV000986622 SCV001135664 likely benign Noonan syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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